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Dysmorphology Survey

dysmorph

01

Dysmorphology Survey Defined by EARLI: Early Autism Rick Longitudinal Investigation

Download Definition as
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Element NameData TypeSizeRequiredDescriptionValue RangeNotesAliases
subjectkeyGUIDRequiredThe NDAR Global Unique Identifier (GUID) for research subjectNDAR*
src_subject_idString20RequiredSubject ID how it's defined in lab/projectindividual
interview_dateDateRequiredDate on which the interview/genetic test/sampling/imaging was completed. MM/DD/YYYYRequired fieldDateAssessment
interview_ageIntegerRequiredAge in months at the time of the interview/test/sampling/imaging.0 :: 1260Age is rounded to chronological month. If the research participant is 15-days-old at time of interview, the appropriate value would be 0 months. If the participant is 16-days-old, the value would be 1 month.
genderString20RequiredSex of the subjectM;FM = Male; F = Female
site_idIntegerRecommendedNumber assigned to siteStudy_ID
phenotypeString200RequiredPhenotype/diagnosis for the subject
pda_s1q1_scaleFloatRecommendedweight scale
pda_s1q1_initial_scaleString50RecommendedInitial Scale reading with object
pda_s1q1_comString255RecommendedComments (type of object used)
bio_mother_raceString150RecommendedBiological Mother Race
American Indian/Alaska Native; Asian; Hawaiian or Pacific Islander; Black or African American; White; More than one race; Unknown or not reported
pda_s2q2_ht_mthrString255RecommendedBiological mother height metricmother_height
pda_s2q2_percentile_ht_mthrIntegerRecommendedBiological mother height percentile
pda_s2q2_com_ht_mthrString255RecommendedBiological mother height exam comments
pda_s2q2_unreliability_ht_mthrIntegerRecommendedUnrealiabilityUnreliable=0
pda_s2q2_head_circumferenceString50RecommendedBio mother Head circumference (cm)mother_head_circumference
pda_s2q2_percentile_head_mthrString50RecommendedBio mother Head circumference percentile
pda_s2q2_com_head_mthrString255RecommendedBio mother Head circumference exam comments
pda_s2q2_unrel_head_mthrIntegerRecommendedUnrealiabilityUnreliable=0PDA_S2Q2_Unreliability_Head_mthr
bio_father_raceString150RecommendedBiological Father RaceAmerican Indian/Alaska Native; Asian; Hawaiian or Pacific Islander; Black or African American; White; More than one race; Unknown or not reported
pda_s2q3_ht_faString50RecommendedBiological father height metricfather_height
pda_s2q3_percentile_ht_faIntegerRecommendedBiological father height percentile
pda_s2q3_com_ht_faString255RecommendedBiological father height exam comments
pda_s2q3_unreliability_faIntegerRecommendedUnrealiabilityUnreliable=0
pda_s2q3_head_circumference_faString50RecommendedBio father head circumference (cm)father_head_circumference
pda_s2q3_percentile_head_faIntegerRecommendedBio father head circumference percentile
pda_s2q3_com_head_faString255RecommendedBio father head circumference exam comments
pda_s2q3_unreliability_head_faIntegerRecommendedUnrealiabilityUnreliable=0
height_metFloatRecommendedHeight - Metric UnitPDA_S3Q4_Ht_Measurement, height_value
pda_s3q4_ht_percentileString50RecommendedHeight percentileheight_percent
pda_s3q4_ht_examcomString255RecommendedHeight exam comments
pda_s3q4_ht_unreliableIntegerRecommendedUnrealiabilityUnreliable=0
weight_metFloatRecommendedWeight - Metric UnitPDA_S3Q4_wt_Measurement, weight_value
pda_s3q4_wt_percentileIntegerRecommendedWeight percentileweight_percent
pda_s3q4_wt_examcomString255RecommendedWeight exam comment
pda_s3q4_wt_unreliableIntegerRecommendedUnrealiabilityUnreliable=0
head_circumFloatRecommendedHead Circumference (in cm)-1 = Not knownPDA_S3Q4_HeadCirc_Measurement, hc_value
pda_s3q4_headcirc_percentileIntegerRecommendedHead circumference percentilehc_percent
pda_s3q4_headcirc_examcomString255RecommendedHead circumference exam comments
pda_s3q4_headcirc_unreliableIntegerRecommendedUnrealiabilityUnreliable=0
bmiFloatRecommendedbody mass index of subjectPDA_S3Q4_BMI_Measurement
pda_s3q4_bmi_percentileIntegerRecommendedBMI percentile
pda_s3q4_bmi_examcomString255RecommendedBMI Exam Comments
pda_s3q4_bmi_unreliableIntegerRecommendedUnrealiabilityUnreliable=0
dysm_headIntegerRecommendedHead - Normal0; 10 = No; 1 = YesPDA_S3Q5_Head
pda_s3q5_brachycephalyIntegerRecommendedBrachycephaly0;1Normal=0; Abnormal = 1;
pda_s3q5_dolichocephalyIntegerRecommendedDolichocephaly/scaphocephaly0;1Normal=0; Abnormal = 1;
pda_s3q5_macrocephalyIntegerRecommendedMacrocephaly;0;1Normal=0; Abnormal = 1;
pda_s3q5_microcephalyIntegerRecommendedMicrocephaly0;1Normal=0; Abnormal = 1;
pda_s3q5_plagiocephalyIntegerRecommendedPlagiocephaly/asymmetrical skull0;1Normal=0; Abnormal = 1;
pda_s3q5_other_headIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q5_com_headString255RecommendedHead other. Comments
pda_s3q5_phto_com_headString255RecommendedComments. Photo head
pda_s3q5_unreliable_headIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q5_genticist_headString255RecommendedHead. Geneticist comments
pda_s3q6_foreheadIntegerRecommendedForehead0;1Normal=0; Abnormal = 1;
pda_s3q6_frontal_bossingIntegerRecommendedProminent forehead/frontal bossing0;1Normal=0; Abnormal = 1;
pda_s3q6_wide_foreheadIntegerRecommendedWide forehead0;1Normal=0; Abnormal = 1;
pda_s3q6_narrow_foreheadIntegerRecommendedNarrow forehead/temporal narrowing0;1Normal=0; Abnormal = 1;
pda_s3q6_other_foreheadIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q6_com_foreheadString255RecommendedForehead comments
pda_s3q6_phto_com_foreheadString255RecommendedForehead photo comments
pda_s3q6_unreliable_foreheadIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q6_genticist_foreheadString255RecommendedForehead. Geneticist Comments
dysm_hair_normIntegerRecommendedHair - Normal0;10 = No; 1 = YesPDA_S3Q7_Hair, hair_growth_nl_abn
pda_s3q7_highfrontalhairlineIntegerRecommendedHigh frontal hairline0;1Normal=0; Abnormal = 1;
skin_lfronthairString50RecommendedLow Frontal Hairline
Yes;No;NE;_BLANK_
NE = Not examinedPDA_S3Q7_LowFrontalHairLine
pda_s3q7_widowspeakIntegerRecommendedWidow's Peak0;1Normal=0; Abnormal = 1;
dysm_hair_fron_upIntegerRecommendedHair - Frontal Upsweep0; 10 = No; 1 = YesPDA_S3Q7_FrontalUpsweep
dysm_hair_whor_doubIntegerRecommendedHair - Double Hair Whorl0; 10 = No; 1 = YesPDA_S3Q7_DoubleWhorls
pda_s3q7_lowhairlineIntegerRecommendedLow hairline (posterior)0;1Normal=0; Abnormal = 1;
dysm_back_hirsIntegerRecommendedBack - Hirsutism0; 10 = No; 1 = YesPDA_S3Q7_Hirsutism
pda_s3q7_other_hairIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q7_com_hairString255RecommendedHair. Comments
pda_s3q7_phto_com_hairString255RecommendedHair photo. Comments
pda_s3q7_unreliable_hairIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q7_genticist_hairString255RecommendedHair. Geneticist comments
dysm_face_normIntegerRecommendedFace - Normal0; 10 = No; 1 = YesPDA_S3Q8_Face
dysm_face_asymIntegerRecommendedFace - Asymmetry0; 10 = No; 1 = YesPDA_S3Q8_asymFace
dysm_face_coarIntegerRecommendedFace - Coarse0; 10 = No; 1 = YesPDA_S3Q8_CoarseFacialFeatures
pda_s3q8_flatfaceIntegerRecommendedFlat face0;1Normal=0; Abnormal = 1;
head_hypoplasiaString50RecommendedMidface Hypoplasia
Yes;No;NE;_BLANK_
NE = Not examinedPDA_S3Q8_MidFaceHypoplasia
pda_s3q8_smallfaceIntegerRecommendedSmall face0;1Normal=0; Abnormal = 1;
dysm_face_longIntegerRecommendedFace - Long/Narrow0; 10 = No; 1 = YesPDA_S3Q8_ThinLongFace
dysm_face_triaIntegerRecommendedFace - Triangular0; 10 = No; 1 = YesPDA_S3Q8_TriangularFace
pda_s3q8_absentnasoliabialfoldIntegerRecommendedAbsent nasolabial fold (at rest)0;1Normal=0; Abnormal = 1;
dysm_jaw_pointIntegerRecommendedJaw - Pointed Chin0; 10 = No; 1 = YesPDA_S3Q8_PointedChin
pda_s3q8_prominentmandibleIntegerRecommendedProminent mandible/prognathism0;1Normal=0; Abnormal = 1;
pda_s3q8_smallmandibleIntegerRecommendedSmall mandible/micrognathia0;1Normal=0; Abnormal = 1;
pda_s3q8_other_faceIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q8_com_faceString255RecommendedFace comments
pda_s3q8_phto_com_faceString255RecommendedFace photo comments
pda_s3q8_unreliable_faceIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q8_genticist_faceString255RecommendedFace. Geneticist comments
dysm_eyesIntegerRecommendedEyes - Normal0; 10 = No; 1 = YesPDA_S3Q9_Eyes
pda_s3q9_nodular_eyelidsIntegerRecommendedNodular eyelids0;1Normal=0; Abnormal = 1;
eyes_ptosisString50RecommendedPtosis
Yes;No;NK
NK = Not knownPDA_S3Q9_ptosis_eyelids
dysm_eyes_epicIntegerRecommendedEyes - Epicanthal Folds0; 10 = No; 1 = YesPDA_S3Q9_epcanthalFolds
eyes_fissslantString50RecommendedPalpebral Fissure SlantUp;Down;Normal
pda_s3q9_shortpalpebralFloatRecommendedShort palpebral fissures (measurement)
pda_s3q9_widepalpebralFloatRecommendedWide/long palpebral fissures (measurement)
pda_s3q9_periorbitalskinIntegerRecommendedPeriorbital skin, general abnormalities0;1Normal=0; Abnormal = 1;
eyes_periorfullString50RecommendedPeriorbital Fullness
Yes;No;NE
NE = Not examinedPDA_S3Q9_Fullness
pda_s3q9_deepsetIntegerRecommendedDeep-set eyes0;1Normal=0; Abnormal = 1;
pda_s3q9_hypertelorismIntegerRecommendedHypertelorism (measurement)0;1Normal=0; Abnormal = 1;
pda_s3q9_hypotelorismIntegerRecommendedHypotelorism (measurement)0;1Normal=0; Abnormal = 1;
pda_s3q9_prominenteyesIntegerRecommendedProminent eyes/proptosis0;1Normal=0; Abnormal = 1;
pda_s3q9_other_eyesIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q9_com_eyesString255RecommendedEyes. Comments
pda_s3q9_phto_com_eyesString255RecommendedEyes; comments
pda_s3q9_unreliable_eyesIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q9_genticist_eyesString255RecommendedEyes. Geneticist comments
pda_s3q10_eyebrowsIntegerRecommendedEyebrows0;1Normal=0; Abnormal = 1;
pda_s3q10_sparseIntegerRecommendedSparse/decreases eyebrows0;1Normal=0; Abnormal = 1;
pda_s3q10_medialflareIntegerRecommendedMedial eyebrow flare0;1Normal=0; Abnormal = 1;
eyes_synophrysString50RecommendedSynophrys
Yes;No;NE
NE = Not examinedPDA_S3Q10_synophrys
pda_s3q10_thickeyebrowsIntegerRecommendedThick eyebrows0;1Normal=0; Abnormal = 1;
pda_s3q10_other_eyebrowsIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q10_com_eyebrowsString255RecommendedEyebrows comments
pda_s3q10_phto_com_eyebrowsString255RecommendedEyebrows photo comments
pda_s3q10_unreliable_eyebrowsIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q10_genticist_eyebrowsString255RecommendedEyebrows geneticist comments
pda_s3q11_nosesizeIntegerRecommendedNose size0;1Normal=0; Abnormal = 1;
pda_s3q11_largenoseIntegerRecommendedLarge/long nose (by impression)0;1Normal=0; Abnormal = 1;
pda_s3q11_smallnoseIntegerRecommendedSmall/short nose (by impression)0;1Normal=0; Abnormal = 1;
pda_s3q11_other_nosesizeIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q11_com_nosesizeString255RecommendedNose size comments
pda_s3q11_phto_com_nosesizeString255RecommendedNose size photo comments
pda_s3q11_unreliable_nosesizeIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q11_genticist_nosesizeString255RecommendedNose size geneticisit comments
pda_s3q12_nosestrucIntegerRecommendedNose structure0;1Normal=0; Abnormal = 1;
pda_s3q12_depressedbridgeIntegerRecommendedDepressed/flat nasal bridge0;1Normal=0; Abnormal = 1;
pda_s3q12_highbridgeIntegerRecommendedHigh/prominent nasal bridge0;1Normal=0; Abnormal = 1;
pda_s3q12_shortseptumIntegerRecommendedShort nasal septum0;1Normal=0; Abnormal = 1;
pda_s3q12_broadtipIntegerRecommendedBroad nasal tip0;1Normal=0; Abnormal = 1;
pda_s3q12_bulboustipIntegerRecommendedBulbou tip0;1Normal=0; Abnormal = 1;
pda_s3q12_flatnoseIntegerRecommendedFlat nose0;1Normal=0; Abnormal = 1;
pda_s3q12_pinchednoseIntegerRecommendedPinched nose0;1Normal=0; Abnormal = 1;
pda_s3q12_upturnedIntegerRecommendedUpturned0;1Normal=0; Abnormal = 1;
pda_s3q12_broadbaseIntegerRecommendedBroad base to nose0;1Normal=0; Abnormal = 1;
pda_s3q12_widebridgeIntegerRecommendedWide nasal bridge0;1Normal=0; Abnormal = 1;
pda_s3q12_other_nosestrucIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q12_com_nosestrucString255RecommendedNose structure comments
pda_s3q12_phto_com_nosestrucString255RecommendedNose structure photo comments
pda_s3q12_unreliable_nosestrucIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q12_genticist_nosestrucString255RecommendedNose structure geneticicst comments
pda_s3q13_mthlipsIntegerRecommendedMouth and lips0;1Normal=0; Abnormal = 1;
pda_s3q13_long_philtrumIntegerRecommendedLong philtrum (measurement)
pda_s3q13_short_philtrumIntegerRecommendedShort philtrum (measurement)
pda_s3q13_simple_philtrumIntegerRecommendedSimple/absent philtrum (by impression)0;1Normal=0; Abnormal = 1;
pda_s3q13_wide_philtrumIntegerRecommendedwide philtrum (by impression)0;1Normal=0; Abnormal = 1;
pda_s3q13_macrostomiaIntegerRecommendedMacrostomia0;1Normal=0; Abnormal = 1;
pda_s3q13_microstomiaIntegerRecommendedMicrostomia0;1Normal=0; Abnormal = 1;
pda_s3q13_cupid_shapeIntegerRecommendedCupid bow shape of mouth0;1Normal=0; Abnormal = 1;
pda_s3q13_open_appearanceIntegerRecommendedOpen mouth appearance0;1Normal=0; Abnormal = 1;
pda_s3q13_thin_lipsIntegerRecommendedThin lips0;1Normal=0; Abnormal = 1;
pda_s3q13_thin_upperlipIntegerRecommendedThin upper lip0;1Normal=0; Abnormal = 1;
pda_s3q13_cleft_upperlipIntegerRecommendedCleft upper lip (non-midline)0;1Normal=0; Abnormal = 1;
pda_s3q13_tented_mthIntegerRecommendedTented mouth0;1Normal=0; Abnormal = 1;
pda_s3q13_widemouthIntegerRecommendedWide mouth0;1Normal=0; Abnormal = 1;
pda_s3q13_downturnedIntegerRecommendedDown-turned corners of the mouth0;1Normal=0; Abnormal = 1;
pda_s3q13_prominent_lowerlipIntegerRecommendedPromintent/everted lower lip0;1Normal=0; Abnormal = 1;
pda_s3q13_other_mth_lipsIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q13_com_mthlipsString255RecommendedMouth and lips comments
pda_s3q13_phto_com_mthlipsString255RecommendedMouth and lips photo comments
pda_s3q13_unreliable_mth_lipsIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q13_genticist_mthlipsString255RecommendedMouth and lips geneticist comments
pda_s3q14_teeth1IntegerRecommendedTeeth0;1Normal=0; Abnormal = 1;teeth_nl_abn
pda_s3q14_enamel_abnormals1IntegerRecommendedEnamel abnormalities0;1Normal=0; Abnormal = 1;
pda_s3q14_crowded1IntegerRecommendedIrregular or crowded teeth0;1Normal=0; Abnormal = 1;
pda_s3q14_abnormalshape1IntegerRecommendedAbnormally shaped teeth0;1Normal=0; Abnormal = 1;
pda_s3q14_smallteeth1IntegerRecommendedSmall teeth0;1Normal=0; Abnormal = 1;
pda_s3q14_widespaced1IntegerRecommendedWide-spaced teeth0;1Normal=0; Abnormal = 1;
pda_s3q14_other_teeth1IntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q14_com_teeth1String255RecommendedTeeth comments
pda_s3q14_phto_com_teeth1String255RecommendedTeeth photo comments
pda_s3q14_unreliable_teeth1IntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q14_genticist_teeth1String255RecommendedTeeth geneticist comments
pda_s3q16_earsIntegerRecommendedEars0;1Normal=0; Abnormal = 1;
pda_s3q16_asymearsIntegerRecommendedAsymmetric ears0;1Normal=0; Abnormal = 1;
pda_s3q16_asymearsrightIntegerRecommendedAsymmetric ears Right0;1Normal=0; Abnormal = 1;
pda_s3q16_asymearsleftIntegerRecommendedAsymmetric ears Left0;1Normal=0; Abnormal = 1;
pda_s3q16_dysplasticearsIntegerRecommendedDysplastic ears0;1Normal=0; Abnormal = 1;
pda_s3q16_dysplasticearsrIntegerRecommendedDysplastic ears Right0;1Normal=0; Abnormal = 1;
pda_s3q16_dysplasticearslIntegerRecommendedDysplastic ears Left0;1Normal=0; Abnormal = 1;
pda_s3q16_largeearsIntegerRecommendedSize - Large (by measurement)0;1Normal=0; Abnormal = 1;
pda_s3q16_largeearsrIntegerRecommendedSize - Large Right
pda_s3q16_largeearslIntegerRecommendedSize - Large Left
pda_s3q16_smallearsIntegerRecommendedSize - Small (by measurement)0;1Normal=0; Abnormal = 1;
pda_s3q16_smallearsrIntegerRecommendedSize - Small Right
pda_s3q16_smallearslIntegerRecommendedSize - Small Left
pda_s3q16_lowsetpositionIntegerRecommendedPosition - Low set0;1Normal=0; Abnormal = 1;
pda_s3q16_lowsetpositionrIntegerRecommendedPosition - Low set Right0;1Normal=0; Abnormal = 1;
pda_s3q16_lowsetpositionlIntegerRecommendedPosition - Low set Left0;1Normal=0; Abnormal = 1;
pda_s3q16_rotationIntegerRecommendedRotation - Posteriorly0;1Normal=0; Abnormal = 1;
pda_s3q16_rotationrIntegerRecommendedRotation - Posteriorly Right0;1Normal=0; Abnormal = 1;
pda_s3q16_rotationlIntegerRecommendedRotation - Posteriorly Left0;1Normal=0; Abnormal = 1;
pda_s3q16_simpleshapeIntegerRecommendedShape - Simple0;1Normal=0; Abnormal = 1;
pda_s3q16_simpleshaperIntegerRecommendedShape - Simple Right0;1Normal=0; Abnormal = 1;
pda_s3q16_simpleshapelIntegerRecommendedShape - Simple Left0;1Normal=0; Abnormal = 1;
pda_s3q16_lopshapeIntegerRecommendedShape - Lop0;1Normal=0; Abnormal = 1;
pda_s3q16_lopshaperIntegerRecommendedShape - Lop Right0;1Normal=0; Abnormal = 1;
pda_s3q16_lopshapelIntegerRecommendedShape - Lop Left0;1Normal=0; Abnormal = 1;
pda_s3q16_cuppedshapeIntegerRecommendedShape - Cupped0;1Normal=0; Abnormal = 1;
pda_s3q16_cuppedshaperIntegerRecommendedShape - Cupped Right0;1Normal=0; Abnormal = 1;
pda_s3q16_cuppedshapelIntegerRecommendedShape - Cupped Left0;1Normal=0; Abnormal = 1;
pda_s3q16_protuberantIntegerRecommendedShape - Protuberant ears0;1Normal=0; Abnormal = 1;
pda_s3q16_protuberantrIntegerRecommendedShape - Protuberant ears Right0;1Normal=0; Abnormal = 1;
pda_s3q16_protuberantlIntegerRecommendedShape - Protuberant ears Left0;1Normal=0; Abnormal = 1;
pda_s3q16_foldedhelixIntegerRecommendedHelix - Folded0;1Normal=0; Abnormal = 1;
pda_s3q16_foldedhelixrIntegerRecommendedHelix - Folded Right0;1Normal=0; Abnormal = 1;
pda_s3q16_foldedhelixlIntegerRecommendedHelix - Folded Left0;1Normal=0; Abnormal = 1;
pda_s3q16_notcheshelixIntegerRecommendedHelix - Notches in helix0;1Normal=0; Abnormal = 1;
pda_s3q16_notcheshelixrIntegerRecommendedHelix - Notches in helix Right0;1Normal=0; Abnormal = 1;
pda_s3q16_notcheshelixlIntegerRecommendedHelix - Notches in helix Left0;1Normal=0; Abnormal = 1;
pda_s3q16_prominenthelixIntegerRecommendedHelix - Prominent helix0;1Normal=0; Abnormal = 1;
pda_s3q16_prominenthelixrIntegerRecommendedHelix - Prominent helix Right0;1Normal=0; Abnormal = 1;
pda_s3q16_prominenthelixlIntegerRecommendedHelix - Prominent helix Left0;1Normal=0; Abnormal = 1;
pda_s3q16_crumpledhelixIntegerRecommendedHelix - Crumpled helix0;1Normal=0; Abnormal = 1;
pda_s3q16_crumpledhelixr1IntegerRecommendedHelix - Crumpled helix Right0;1Normal=0; Abnormal = 1;
pda_s3q16_crumpledhelixr2IntegerRecommendedHelix - Crumpled helix Left0;1Normal=0; Abnormal = 1;
pda_s3q16_auricularIntegerRecommendedHelix/Lobe - Auricular pits/fistulas0;1Normal=0; Abnormal = 1;
pda_s3q16_auricularrIntegerRecommendedHelix/Lobe - Auricular pits/fistulas Right0;1Normal=0; Abnormal = 1;
pda_s3q16_auricularlIntegerRecommendedHelix/Lobe - Auricular pits/fistulas Left0;1Normal=0; Abnormal = 1;
pda_s3q16_adherentlobesIntegerRecommendedLobe - Adherent/attached0;1Normal=0; Abnormal = 1;
pda_s3q16_adherentlobesrIntegerRecommendedLobe - Adherent/attached Right0;1Normal=0; Abnormal = 1;
pda_s3q16_adherentlobeslIntegerRecommendedLobe - Adherent/attached Left0;1Normal=0; Abnormal = 1;
pda_s3q16_other_earsIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q16_com_earsString255RecommendedEars comments
pda_s3q16_phto_com_earsString255RecommendedEars photo comments
pda_s3q16_unreliable_earsIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q16_genticist_earsString255RecommendedEars geneticist comments
pda_s3q17_hands1IntegerRecommendedHands0;1Normal=0; Abnormal = 1;
pda_s3q17_largehands1IntegerRecommendedLarge hands (measurement)
pda_s3q17_largehandsr1IntegerRecommendedLarge hands Right
pda_s3q17_largehandsl1IntegerRecommendedLarge hands Left
pda_s3q17_smallhands1IntegerRecommendedSmall Hands (measurement)
pda_s3q17_smallhandsr1IntegerRecommendedSmall Hands Right
pda_s3q17_smallhandsl1IntegerRecommendedSmall Hands Left
limb_camptodacString50RecommendedCamptodactyly
Yes;No;NE;_BLANK_
NE = Not examinedPDA_S3Q17_Camptodactyly1
pda_s3q17_camptodactylyr1IntegerRecommendedCamptodactyly Right0;1Normal=0; Abnormal = 1;
pda_s3q17_camptodactylyl1IntegerRecommendedCamptodactyly Left0;1Normal=0; Abnormal = 1;
limb_clinoString50RecommendedClinodactyly
Yes;No;NE;_BLANK_
NE = Not examinedPDA_S3Q17_Clinodactyly1
pda_s3q17_clinodactylyl1IntegerRecommendedClinodactyly Right0;1Normal=0; Abnormal = 1;
pda_s3q17_clinodactylyr1IntegerRecommendedClinodactyly Left0;1Normal=0; Abnormal = 1;
pda_s3q17_curvedfinger1IntegerRecommendedCurved 5th finger0;1Normal=0; Abnormal = 1;
pda_s3q17_curvedfingerr1IntegerRecommendedCurved 5th finger Right0;1Normal=0; Abnormal = 1;
pda_s3q17_curvedfingerl1IntegerRecommendedCurved 5th finger Left0;1Normal=0; Abnormal = 1;
pda_s3q17_taperingfinger1IntegerRecommendedTapering fingers0;1Normal=0; Abnormal = 1;
pda_s3q17_taperingfingerr1IntegerRecommendedTapering fingers Right0;1Normal=0; Abnormal = 1;
pda_s3q17_taperingfingerl1IntegerRecommendedTapering fingers Left0;1Normal=0; Abnormal = 1;
pda_s3q17_shortmetacarpals1IntegerRecommendedShort/hypoplastic metacarpals0;1Normal=0; Abnormal = 1;
pda_s3q17_shortmetacarpalsr1IntegerRecommendedShort/hypoplastic metacarpals Right0;1Normal=0; Abnormal = 1;
pda_s3q17_shortmetacarpalsl1IntegerRecommendedShort/hypoplastic metacarpals Left0;1Normal=0; Abnormal = 1;
pda_s3q17_shortphalanges1IntegerRecommendedShort phalanges0;1Normal=0; Abnormal = 1;
pda_s3q17_shortphalangesr1IntegerRecommendedShort phalanges Right0;1Normal=0; Abnormal = 1;
pda_s3q17_shortphalangesl1IntegerRecommendedShort phalanges Left0;1Normal=0; Abnormal = 1;
pda_s3q17_widephalanges1IntegerRecommendedWide phalanges0;1Normal=0; Abnormal = 1;
pda_s3q17_widephalangesr1IntegerRecommendedWide phalanges Right0;1Normal=0; Abnormal = 1;
pda_s3q17_widephalangesl1IntegerRecommendedWide phalanges Left0;1Normal=0; Abnormal = 1;
pda_s3q17_longphalanges1IntegerRecommendedLong phalanges0;1Normal=0; Abnormal = 1;
pda_s3q17_longphalangesr1IntegerRecommendedLong phalanges Right0;1Normal=0; Abnormal = 1;
pda_s3q17_longphalangesl1IntegerRecommendedLong phalanges Left0;1Normal=0; Abnormal = 1;
pda_s3q17_broadthumbs1IntegerRecommendedBroad thumbs0;1Normal=0; Abnormal = 1;
pda_s3q17_broadthumbsr1IntegerRecommendedBroad thumbs Right0;1Normal=0; Abnormal = 1;
pda_s3q17_broadthumbsl1IntegerRecommendedBroad thumbs Left0;1Normal=0; Abnormal = 1;
pda_s3q17_indexmiddle1IntegerRecommendedIndex finger bigger than middle finger0;1Normal=0; Abnormal = 1;
pda_s3q17_indexmiddler1IntegerRecommendedIndex finger bigger than middle finger Right0;1Normal=0; Abnormal = 1;
pda_s3q17_indexmiddlel1IntegerRecommendedIndex finger bigger than middle finger Left0;1Normal=0; Abnormal = 1;
pda_s3q17_singlecrease1IntegerRecommendedSingle transverse crease0;1Normal=0; Abnormal = 1;
pda_s3q17_singlecreaser1IntegerRecommendedSingle transverse crease Right0;1Normal=0; Abnormal = 1;
pda_s3q17_singlecreasel1IntegerRecommendedSingle transverse crease Left0;1Normal=0; Abnormal = 1;
pda_s3q17_other_hands1IntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q17_com_hands1String255RecommendedHands comments
pda_s3q17_phto_com_hands1String255RecommendedHands photo comments
pda_s3q17_unreliable_hands1IntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q17_genticist_hands1String255RecommendedHands geneticist comments
pda_s3q18_nailsIntegerRecommendedNails0;1Normal=0; Abnormal = 1;
pda_s3q18_hyperplasticIntegerRecommendedHyperplastic, includes rigid nails0;1Normal=0; Abnormal = 1;
pda_s3q18_hyperplasticrIntegerRecommendedHyperplastic, includes rigid nails Right0;1Normal=0; Abnormal = 1;
pda_s3q18_hyperplasticlIntegerRecommendedHyperplastic, includes rigid nails Left0;1Normal=0; Abnormal = 1;
pda_s3q18_hyperconvexIntegerRecommendedHyperconvex/clubbed nails0;1Normal=0; Abnormal = 1;
pda_s3q18_hyperconvexrIntegerRecommendedHyperconvex/clubbed nails Right0;1Normal=0; Abnormal = 1;
pda_s3q18_hyperconvexlIntegerRecommendedHyperconvex/clubbed nails Left0;1Normal=0; Abnormal = 1;
pda_s3q18_smalldeepsetIntegerRecommendedSmall/hypoplastic/deepset nails0;1Normal=0; Abnormal = 1;
pda_s3q18_smalldeepsetrIntegerRecommendedSmall/hypoplastic/deepset nails Right0;1Normal=0; Abnormal = 1;
pda_s3q18_smalldeepsetlIntegerRecommendedSmall/hypoplastic/deepset nails Left0;1Normal=0; Abnormal = 1;
pda_s3q18_shortnailsIntegerRecommendedShort nails0;1Normal=0; Abnormal = 1;
pda_s3q18_shortnailsrIntegerRecommendedShort nails Right0;1Normal=0; Abnormal = 1;
pda_s3q18_shortnailslIntegerRecommendedShort nails Left0;1Normal=0; Abnormal = 1;
pda_s3q18_other_nailsIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q18_com_nailsString255RecommendedNails comments
pda_s3q18_phto_com_nailsString255RecommendedNails photo comments
pda_s3q18_unreliable_nailsIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q18_genticist_nailsString255RecommendedNails geneticist comments
pda_s3q19_feet2IntegerRecommendedFeet0;1Normal=0; Abnormal = 1;feet_nl_abn
pda_s3q19_largefeet2IntegerRecommendedLarge feet0;1Normal=0; Abnormal = 1;
pda_s3q19_largefeetr2IntegerRecommendedLarge feet Right0;1Normal=0; Abnormal = 1;
pda_s3q19_largefeetl2IntegerRecommendedLarge feet Left0;1Normal=0; Abnormal = 1;
pda_s3q19_smallfeet2IntegerRecommendedSmall feet0;1Normal=0; Abnormal = 1;
pda_s3q19_smallfeetr2IntegerRecommendedSmall feet Right0;1Normal=0; Abnormal = 1;
pda_s3q19_smallfeetl2IntegerRecommendedSmall feet Left0;1Normal=0; Abnormal = 1;
pda_s3q19_widefeet2IntegerRecommendedWide feet0;1Normal=0; Abnormal = 1;
pda_s3q19_widefeetr2IntegerRecommendedWide feet Right0;1Normal=0; Abnormal = 1;
pda_s3q19_widefeetl2IntegerRecommendedWide feet Left0;1Normal=0; Abnormal = 1;
pda_s3q19_clubfoot2IntegerRecommendedClub foot, varus0;1Normal=0; Abnormal = 1;
pda_s3q19_clubfootr2IntegerRecommendedClub foot, varus Right0;1Normal=0; Abnormal = 1;
pda_s3q19_clubfootl2IntegerRecommendedClub foot, varus Left0;1Normal=0; Abnormal = 1;
pda_s3q19_hallux2IntegerRecommendedHallux valgus0;1Normal=0; Abnormal = 1;
pda_s3q19_halluxr2IntegerRecommendedHallux valgus Right0;1Normal=0; Abnormal = 1;
pda_s3q19_halluxl2IntegerRecommendedHallux valgus Left0;1Normal=0; Abnormal = 1;
pda_s3q19_toes2IntegerRecommended2nd and 3rd toes as long as 1st toe0;1Normal=0; Abnormal = 1;
pda_s3q19_toesr2IntegerRecommended2nd and 3rd toes as long as 1st toe Right0;1Normal=0; Abnormal = 1;
pda_s3q19_toesl2IntegerRecommended2nd and 3rd toes as long as 1st toe Left0;1Normal=0; Abnormal = 1;
pda_s3q19_thirdtoe2IntegerRecommended3rd toe longer than 2nd toe0;1Normal=0; Abnormal = 1;
pda_s3q19_thirdtoer2IntegerRecommended3rd toe longer than 2nd toe Right0;1Normal=0; Abnormal = 1;
pda_s3q19_thirdtoel2IntegerRecommended3rd toe longer than 2nd toe Left0;1Normal=0; Abnormal = 1;
pda_s3q19_syndactylyfull2IntegerRecommendedSyndactyly of toes (full)0;1Normal=0; Abnormal = 1;
pda_s3q19_syndactylyfullr2IntegerRecommendedSyndactyly of toes (full) Right0;1Normal=0; Abnormal = 1;
pda_s3q19_syndactylyfulll2IntegerRecommendedSyndactyly of toes (full) Left0;1Normal=0; Abnormal = 1;
pda_s3q19_syndactylypartial2IntegerRecommendedSyndactyly of toes (partial)0;1Normal=0; Abnormal = 1;
pda_s3q19_syndactylypartialr2IntegerRecommendedSyndactyly of toes (partial) Right0;1Normal=0; Abnormal = 1;
pda_s3q19_syndactylypartiall2IntegerRecommendedSyndactyly of toes (partial) Left0;1Normal=0; Abnormal = 1;
pda_s3q19_r_numberoftoes2IntegerRecommendedNumber of toes right
pda_s3q19_l_numberoftoes2IntegerRecommendedNumber of toes left
pda_s3q19_short_toes2IntegerRecommendedShort toes0;1Normal=0; Abnormal = 1;
pda_s3q19_short_toesr2IntegerRecommendedShort toes Right0;1Normal=0; Abnormal = 1;
pda_s3q19_short_toesl2IntegerRecommendedShort toes Left0;1Normal=0; Abnormal = 1;
pda_s3q19_widespaced3IntegerRecommendedWide spaced toes0;1Normal=0; Abnormal = 1;
pda_s3q19_widespacedr2IntegerRecommendedWide spaced toes Right0;1Normal=0; Abnormal = 1;
pda_s3q19_widespacedl2IntegerRecommendedWide spaced toes Left0;1Normal=0; Abnormal = 1;
pda_s3q19_broadtoes2IntegerRecommendedBroad toes0;1Normal=0; Abnormal = 1;
pda_s3q19_broadtoesr2IntegerRecommendedBroad toes Right0;1Normal=0; Abnormal = 1;
pda_s3q19_broadtoesl2IntegerRecommendedBroad toes Left0;1Normal=0; Abnormal = 1;
pda_s3q19_overtoes2IntegerRecommendedOver-riding toes (includes clinodactyly)0;1Normal=0; Abnormal = 1;
pda_s3q19_overtoesr2IntegerRecommendedOver-riding toes (includes clinodactyly) Right0;1Normal=0; Abnormal = 1;
pda_s3q19_overtoesl2IntegerRecommendedOver-riding toes (includes clinodactyly) Left0;1Normal=0; Abnormal = 1;
pda_s3q19_camptodactyly2IntegerRecommendedCamptodactyly/hammer toes0;1Normal=0; Abnormal = 1;
pda_s3q19_camptodactylyr2IntegerRecommendedCamptodactyly/hammer toes Right0;1Normal=0; Abnormal = 1;
pda_s3q19_camptodactylyl2IntegerRecommendedCamptodactyly/hammer toes Left0;1Normal=0; Abnormal = 1;
pda_s3q19_toesother2IntegerRecommendedToes, other0;1Normal=0; Abnormal = 1;
pda_s3q19_toesotherr2IntegerRecommendedToes, other Right0;1Normal=0; Abnormal = 1;
pda_s3q19_toesotherl2IntegerRecommendedToes, other Left0;1Normal=0; Abnormal = 1;
pda_s3q19_other_toes2IntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q19_personexamcomtoes2String255RecommendedFeet comments
pda_s3q19_photocomtoes2String255RecommendedFeet photo comments
pda_s3q19_unreliabletoes2IntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q19_geneticisttoes2String255RecommendedFeet geneticist comments
dysm_skin_normIntegerRecommendedSkin - Normal0; 10 = No; 1 = YesPDA_S3Q20_Skin
pda_s3q20_cutaneousIntegerRecommendedCutaneous findings using ambient light0;1Normal=0; Abnormal = 1;
pda_s3q20_hypopigmentedIntegerRecommendedHypopigmented Mark0;1Normal=0; Abnormal = 1;
pda_s3q20_hyperpigmentedIntegerRecommendedHyperpigmented Mark0;1Normal=0; Abnormal = 1;
pda_s3q20_moleIntegerRecommendedMole0;1Normal=0; Abnormal = 1;
pda_s3q20_other_teeth3IntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q20_wlcutaneousIntegerRecommendedCutaneous findings with Wood's Lamp illumination0;1Normal=0; Abnormal = 1;
pda_s3q20_wlhypopigmentedIntegerRecommendedHypopigmented Mark0;1Normal=0; Abnormal = 1;
pda_s3q20_wlhyperpigmentedIntegerRecommendedHyperpigmented Mark0;1Normal=0; Abnormal = 1;
pda_s3q20_wlmoleIntegerRecommendedMole0;1Normal=0; Abnormal = 1;
pda_s3q20_other_wlteeth3IntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q20_comskinString255RecommendedSkin comments
pda_s3q20_phto_com_skinString255RecommendedSkin photo comments
pda_s3q20_unreliable_skinIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q20_genticist_skinString255RecommendedSkin geneticist comments
neuro_gaitString50RecommendedGaitNormal;Abnormal;NE;_BLANK_NE = Not examinedPDA_S3Q21_Gait
pda_s3q21_toewalkingIntegerRecommendedToe walking (observed only)0;1Normal=0; Abnormal = 1;
pda_s3q21_other_gaitIntegerRecommendedOther (describe in comments)0;1Normal=0; Abnormal = 1;
pda_s3q21_comgaitString255RecommendedGait comments
pda_s3q21_phto_com_gaitString255RecommendedGait photo comments
pda_s3q21_unreliable_gaitIntegerRecommendedUnrealiabilityUnreliable=0
pda_s3q21_genticist_gaitString255RecommendedGait geneticist comments
pda_s3q22_otherobservationsString500RecommendedOther Observations/Comments
pda_s4q24_childbornIntegerRequiredWas (CHILD) born with any problems in the Structure of his/her body or organs (also know as birth defects)?0;1;9990=No; 1=Yes
pda_s4q24_childbornstringString255RecommendedDescribe
pda_s4q25_correctsurgIntegerRecommendedHas (CHILD) had any corrective surgeries? This includes surgeries to repair findings in the abdominal or genital region (such as hernias)?0;10=No; 1=Yes
pda_s4q25_correctsurgdescString255RecommendedDescribe
pda_s4q26_clinicaldiagnosisIntegerRecommendedDoes (CHILD) have a clinical diagnosis of syndrome?0::2No =0; Possible Dx = 1; Yes Dx = 2;
pda_s4q26_possibledxString255RecommendedPossible Dx
pda_s4q26_yesdxString255RecommendedYes Dx
pda_s4q27_geneticsevalIntegerRecommendedHas (CHILD) had a genetics evaluation, blood tests, or been seen by a genetic counselor?0;10=No; 1=Yes
pda_s4q27_yesreasonString255RecommendedReason/Results
father_heightFloatRecommendedFather - Weight
mother_weightFloatRecommendedMother - Weight
sibling1_head_circumferenceFloatRecommendedSibling 1 - Head Circumference (Final)
sibling1_heightFloatRecommendedSibling 1 - Height
sibling1_specifyString50RecommendedSibling 1 - Specify
sibling1_weightFloatRecommendedSibling 1 - Weight
sibling2_head_circumferenceFloatRecommendedSibling 2 - Head Circumference (Final)
sibling2_heightFloatRecommendedSibling 2 - Height
sibling2_specifyString50RecommendedSibling 2 - Specify
sibling2_weightFloatRecommendedSibling 2 - Weight
sibling3_head_circumferenceFloatRecommendedSibling 3 - Head Circumference (Final)
sibling3_heightFloatRecommendedSibling 3 - Height
sibling3_specifyString50RecommendedSibling 3 - Specify
sibling3_weightFloatRecommendedSibling 3 - Weight
sibling4_head_circumferenceFloatRecommendedSibling 4 - Head Circumference (Final)
sibling4_heightFloatRecommendedSibling 4 - Height
sibling4_specifyString50RecommendedSibling 4 - Specify
sibling4_weightFloatRecommendedSibling 4 - Weight
restricted_dietIntegerRecommendedIs proband's name on a restricted diet? Does he/she have any food allergies?0;10=False; 1=True
restricted_diet_initialString50RecommendedRestricted Diet - Initial
restricted_diet_specifyString100RecommendedRestricted Diet - If yes, specify
restricted_diet_yes_noIntegerRecommendedRestricted Diet - Yes/No0;10=No;1=Yes
frontonasal_anomaliesIntegerRecommendedAn embryologically-derived combination score: the sum of anomalies (each dichotomous) derived from the frontonasal prominence derivatives.
frontonasal_maxillary_junctureIntegerRecommendedAn embryologically-derived combination score: the sum of anomalies (each dichotomous) derived from the inteface of the frontonasal and maxillary prominence derivatives.
full_scale_scoreIntegerRecommendedThe total number of anomalies across the Quantitative Dysmorphology protocol.
inclination_anterior_foreheadFloatRecommendedThis angle is measured in the Frankfort Horizontal position, and is determined by the orientation of the trichion-glabella line (tr g).
juv_craniofacial_phenotypeIntegerRecommendedThe Gould definition includes three anthropometric compenents: a wide face, large palpebral fissures, and a rounded forehead in profile. The juvenile phenotype for each component is scored as a dichotomous variable, and the combination variable is defined as the sum of these scores.juvenile_craniofacial_phenotype
skull_base_widthFloatRecommendedThe linear distance between the tragions (t_left t_right). Alternative term: bitragion diameter. The tragion is defined as the superior aspect of the tragus, at its upper margin.
ear_length_left_percentFloatRecommendedLeft Ear Length %
ear_length_right_percentFloatRecommendedRight Ear Length %
ear_length_left_sdFloatRecommendedLeft Ear Length SD
ear_length_right_sdFloatRecommendedRight Ear Length SD
ear_length_left_valueFloatRecommendedLeft Ear Length (cm)
ear_length_right_valueFloatRecommendedRight Ear Length (cm)
ear_structure_dysmorphicIntegerRecommendedEar Structure, Size, Placement - Dysmorphic: EAR = Asymetric; Dysplastic; Prominent or Protruding; Simple; Lop Ear; Auricular Pits/fistulas/tags. HELIX = Over=folded; Notched; Crumpled; Pits on Helix. ANTIHELIX = Prominent. SIZE = Large, Small ears/microtia. PLACE = Low-set, Posteriorly rotated.0;10=No;1=Yes
ear_structure_nl_abnIntegerRecommendedEar Structure, Size, Placement - Abnormal/Normal: EAR = Asymetric; Dysplastic; Prominent or Protruding; Simple; Lop Ear; Auricular Pits/fistulas/tags. HELIX = Over=folded; Notched; Crumpled; Pits on Helix. ANTIHELIX = Prominent. SIZE = Large, Small ears/microtia. PLACE = Low-set, Posteriorly rotated.0;10=Normal;1=Abnormal
ear_structure_parentIntegerRecommendedEar Structure, Size, Placement - In a Parent: EAR = Asymetric; Dysplastic; Prominent or Protruding; Simple; Lop Ear; Auricular Pits/fistulas/tags. HELIX = Over=folded; Notched; Crumpled; Pits on Helix. ANTIHELIX = Prominent. SIZE = Large, Small ears/microtia. PLACE = Low-set, Posteriorly rotated.0;10=No;1=Yes
face_size_dysmorphicIntegerRecommendedFace Size - Dysmorphic: SIZE = Small; Thin/long; Coarse features; STRUCTURE = Asymmetric; Flat; Triangular; Mid-face hypoplasia; Flat malar region; Prominent mandible/prognathism; Small mandible/micrognathia; Chin dimpled,grooved,pointed0;10=No;1=Yes
face_size_nl_abnIntegerRecommendedFace Size - Abnormal/Normal: SIZE = Small; Thin/long; Coarse features; STRUCTURE = Asymmetric; Flat; Triangular; Mid-face hypoplasia; Flat malar region; Prominent mandible/prognathism; Small mandible/micrognathia; Chin dimpled,grooved,pointed0;10=Normal;1=Abnormal
face_size_parentIntegerRecommendedFace Size - In a Parent: SIZE = Small; Thin/long; Coarse features; STRUCTURE = Asymmetric; Flat; Triangular; Mid-face hypoplasia; Flat malar region; Prominent mandible/prognathism; Small mandible/micrognathia; Chin dimpled,grooved,pointed0;10=No;1=Yes
feet_dysmorphicIntegerRecommendedFeet - Dysmorphic: FEET = Large; Small; Wide; Club; Varus; TOES = Short; Syndactyly 2-3; Syndactyly not 2-3; Wide-spaced toes; Broad; Camptodactyly/hammer toes; Over-riding; BIG TOE = Hallux valgus0;10=No;1=Yes
feet_parentIntegerRecommendedFeet - In a parent: FEET = Large; Small; Wide; Club; Varus; TOES = Short; Syndactyly 2-3; Syndactyly not 2-3; Wide-spaced toes; Broad; Camptodactyly/hammer toes; Over-riding; BIG TOE = Hallux valgus0=No;1=Yes
fingers_thumbs_dysmorphicIntegerRecommendedFingers, Thumbs -Dysmorphic: FINGERS = Clinodactyly; Camptodactyly; Short/hypoplastic metacarpals; Syndactyly; Tapering; Thin; Short; Long; Wide; THUMBS = Broad, triphalangeal0=No;1=Yes
fingers_thumbs_nl_abnIntegerRecommendedFingers, Thumbs - Abnormal/Normal: FINGERS = Clinodactyly; Camptodactyly; Short/hypoplastic metacarpals; Syndactyly; Tapering; Thin; Short; Long; Wide; THUMBS = Broad, triphalangeal0=Normal;1=Abnormal
fingers_thumbs_parentIntegerRecommendedFingers, Thumbs - In a Parent: FINGERS = Clinodactyly; Camptodactyly; Short/hypoplastic metacarpals; Syndactyly; Tapering; Thin; Short; Long; Wide; THUMBS = Broad, triphalangeal0=No;1=Yes
foot_length_left_percentFloatRecommendedLeft Foot Length %
foot_length_right_percentFloatRecommendedRight Foot Length %
foot_length_left_sdFloatRecommendedLeft Foot Length SD
foot_length_right_sdFloatRecommendedRight Foot Length SD
foot_length_left_valueFloatRecommendedLeft Foot Length (cm)
foot_length_right_valueFloatRecommendedRight Foot Length (cm)
hand_length_left_percentFloatRecommendedLeft hand Length %
hand_length_right_percentFloatRecommendedRight hand Length %
hand_length_left_sdFloatRecommendedLeft hand Length SD
hand_length_right_sdFloatRecommendedRight hand Length SD
hand_length_left_valueFloatRecommendedLeft hand Length (cm)
hand_length_right_valueFloatRecommendedRight hand Length (cm)
hands_dysmorphicIntegerRecommendedhands - Dysmorphic: Large hands, small hands0;10=No;1=Yes
hands_nl_abnIntegerRecommendedhands - Abnormal/Normal: Large hands, small hands0;10=Normal;1=Abnormal
hands_parentIntegerRecommendedhands - In a Parent: Large hands, small hands0;10=No;1=Yes
hair_growth_dysmorphicIntegerRecommendedHair Growth Pattern - Dysmorphic: Unusual hair whorl/pattern; Widow's Peak; Frontal upsweep / cowlick0;10=No;1=Yes
hair_growth_parentIntegerRecommendedHair Growth Pattern - In a Parent: Unusual hair whorl/pattern; Widow's Peak; Frontal upsweep / cowlick0;10=No;1=Yes
height_sdFloatRecommendedHeight SD
ic_percentFloatRecommendedInner canthus %
ic_sdFloatRecommendedInner canthus SD
ic_valueFloatRecommendedInner canthus (cm)
mouth_lips_dysmorphicIntegerRecommendedMouth and Lips - Dysmorphic - MOUTH = Large/macrostomia; Small/microstomia; SHAPE = Cupid bow; Down-turned corners; Open mouth look; LIPS = Cleft lip; Prominent upper lip; Thin upper lip; Prominent/everted lower ip; Thick lower lip0;10=No;1=Yes
mouth_lips_nl_abnIntegerRecommendedMouth and Lips - Abnormal/Normal -MOUTH = Large/macrostomia; Small/microstomia; SHAPE = Cupid bow; Down-turned corners; Open mouth look; LIPS = Cleft lip; Prominent upper lip; Thin upper lip; Prominent/everted lower ip; Thick lower lip0;10=Normal;1=Abnormal
mouth_lips_parentIntegerRecommendedMouth and Lips - In a Parent - MOUTH = Large/macrostomia; Small/microstomia; SHAPE = Cupid bow; Down-turned corners; Open mouth look; LIPS = Cleft lip; Prominent upper lip; Thin upper lip; Prominent/everted lower ip; Thick lower lip0;10=No;1=Yes
nails_dysmorphicIntegerRecommendedNails - Dysmorphic - Short; Small/hypoplastic; Deep-set; Dystrophic, ridged; Hyperconvex/clubbed0;10=No;1=Yes
nails_nl_abnIntegerRecommendedNails - Abnormal/Normal -Short; Small/hypoplastic; Deep-set; Dystrophic, ridged; Hyperconvex/clubbed0;10=Normal;1=Abnormal
nails_parentIntegerRecommendedNails - In a Parent - Short; Small/hypoplastic; Deep-set; Dystrophic, ridged; Hyperconvex/clubbed0;10=No;1=Yes
nose_size_dysmorphicIntegerRecommendedNose - Dysmorphic - Large/long; Small/short0;10=No;1=Yes
nose_size_nl_abnIntegerRecommendedNose - Abnormal/Normal - Large/long; Small/short0;10=Normal;1=Abnormal
nose_size_parentIntegerRecommendedNose - In a Parent - Large/long; Small/short0;10=No;1=Yes
oc_percentFloatRecommendedOuter Canthus %
oc_sdFloatRecommendedOuter Canthus SD
oc_valueIntegerRecommendedOuter Canthus (cm)
palm_length_left_percentFloatRecommendedLeft palm Length %
palm_length_right_percentFloatRecommendedRight palm Length %
palm_length_left_sdFloatRecommendedLeft palm Length SD
palm_length_right_sdFloatRecommendedRight palm Length SD
palm_length_left_valueFloatRecommendedLeft palm Length (cm)
palm_length_right_valueFloatRecommendedRight palm Length (cm)
philtrum_dysmorphicIntegerRecommendedPhiltrum - Dysmorphic - Long; Short; Prominent/deep; Simple/flat; Wide0;10=No;1=Yes
philtrum_nl_abnIntegerRecommendedPhiltrum - Abnormal/Normal -Long; Short; Prominent/deep; Simple/flat; Wide0;10=Normal;1=Abnormal
philtrum_parentIntegerRecommendedPhiltrum - In a Parent - Long; Short; Prominent/deep; Simple/flat; Wide0;10=No;1=Yes
stature_dysmorphicIntegerRecommendedStature - Short stature < 10%0;10=No;1=Yes
stature_nl_abnIntegerRecommendedStature - Short stature < 10%0;10=Normal;1=Abnormal
stature_parentIntegerRecommendedStature - Short stature < 10%0;10=No;1=Yes
teeth_dysmorphicIntegerRecommendedTeeth - Dysmorphic - Small; Wide spaced, Abn shape, Irregular/crowded; Enamel abn0;10=No;1=Yes
teeth_parentIntegerRecommendedTeeth - In a Parent - Small; Wide spaced, Abn shape, Irregular/crowded; Enamel abn0;10=No;1=Yes
hc_sdIntegerRecommendedHead Circumference SD
weight_sdIntegerRecommendedWeight SD
Data Structure

This page displays the data structure defined for the measure identified in the title and structure short name. The table below displays a list of data elements in this structure (also called variables) and the following information:

  • Element Name: This is the standard element name
  • Data Type: Which type of data this element is, e.g. String, Float, File location.
  • Size: If applicable, the character limit of this element
  • Required: This column displays whether the element is Required for valid submissions, Recommended for valid submissions, Conditional on other elements, or Optional
  • Description: A basic description
  • Value Range: Which values can appear validly in this element (case sensitive for strings)
  • Notes: Expanded description or notes on coding of values
  • Aliases: A list of currently supported Aliases (alternate element names)
  • For valid elements with shared data, on the far left is a Filter button you can use to view a summary of shared data for that element and apply a query filter to your Cart based on selected value ranges

At the top of this page you can also:

  • Use the search bar to filter the elements displayed. This will not filter on the Size of Required columns
  • Download a copy of this definition in CSV format
  • Download a blank CSV submission template prepopulated with the correct structure header rows ready to fill with subject records and upload

Please email the The NDA Help Desk with any questions.

Distribution for DataStructure: dysmorph01 and Element:
Chart Help

Filters enable researchers to view the data shared in NDA before applying for access or for selecting specific data for download or NDA Study assignment. For those with access to NDA shared data, you may select specific values to be included by selecting an individual bar chart item or by selecting a range of values (e.g. interview_age) using the "Add Range" button. Note that not all elements have appropriately distinct values like comments and subjectkey and are not available for filtering. Additionally, item level detail is not always provided by the research community as indicated by the number of null values given.

Filters for multiple data elements within a structure are supported. Selections across multiple data structures will be supported in a future version of NDA.