81
(83.2%)

RAD21

Blepharitis Micrognathia Radioulnar synostosis Short 1st metacarpal Thin upper lip vermilion

Mungan syndrome (OMIM) Cornelia de Lange syndrome 4 (OMIM) Cornelia de Lange syndrome (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance

81
(83.2%)

SMC3

Blepharitis Micrognathia Radioulnar synostosis Short 5th finger Thin upper lip vermilion

Cornelia de Lange syndrome 3 (OMIM) Cornelia de Lange syndrome (ORDO)

Autosomal dominant inheritance

81
(83.2%)

SETD5

Downslanted palpebral fissures Micrognathia Radioulnar synostosis Short 1st metacarpal Thin upper lip vermilion

intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency (OMIM) Cornelia de Lange syndrome (ORDO) Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency (ORDO)

Autosomal dominant inheritance

81
(83.2%)

HDAC8

Blepharitis Micrognathia Radioulnar synostosis Short 1st metacarpal Thin upper lip vermilion

Cornelia de Lange syndrome 5 (OMIM) Cornelia de Lange syndrome (ORDO) Wilson-Turner syndrome (ORDO)

X-linked inheritance X-linked dominant inheritance X-linked recessive inheritance

81
(83.2%)

SETBP1

Downslanted palpebral fissures Micrognathia Radioulnar synostosis Short distal phalanx of finger Thin upper lip vermilion

Schinzel-Giedion syndrome (OMIM) intellectual disability, autosomal dominant 29 (OMIM) Intellectual disability-expressive aphasia-facial dysmorphism syndrome (ORDO) Schinzel-Giedion syndrome (ORDO)

Autosomal dominant inheritance

81
(83.2%)

KMT2A

Epicanthus Micrognathia Radioulnar synostosis Short middle phalanx of finger Thin upper lip vermilion

Wiedemann-Steiner syndrome (OMIM) Cornelia de Lange syndrome (ORDO) Wiedemann-Steiner syndrome (ORDO)

Autosomal dominant inheritance X-linked recessive inheritance

81
(83.2%)

SMC1A

Epicanthus Micrognathia Radioulnar synostosis Short 1st metacarpal Thin upper lip vermilion

Cornelia de Lange syndrome 2 (OMIM) Cornelia de Lange syndrome (ORDO) Wiedemann-Steiner syndrome (ORDO)

X-linked recessive inheritance X-linked dominant inheritance Autosomal dominant inheritance

88
(83.1%)

TRPS1

Micrognathia Short finger Short metatarsal Sparse eyelashes Thin upper lip vermilion

trichorhinophalangeal syndrome type I (OMIM) trichorhinophalangeal syndrome, type III (OMIM) Trichorhinophalangeal syndrome type 2 (ORDO) Trichorhinophalangeal syndrome type 1 and 3 (ORDO)

Autosomal dominant inheritance

88
(83.1%)

MAP3K7

Downslanted palpebral fissures Micrognathia Short distal phalanx of the thumb Short metatarsal Short philtrum

cardiospondylocarpofacial syndrome (OMIM) frontometaphyseal dysplasia 2 (OMIM) Frontometaphyseal dysplasia (ORDO) Cardiospondylocarpofacial syndrome (ORDO)

Autosomal dominant inheritance

88
(83.1%)

ROR2

Epicanthus Micrognathia Short long bone Short middle phalanx of the 5th finger Thin upper lip vermilion

brachydactyly type B1 (OMIM) autosomal recessive Robinow syndrome (OMIM) Autosomal recessive Robinow syndrome (ORDO) Brachydactyly type B (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

88
(83.1%)

PUF60

Epicanthus Microretrognathia Short femur Short middle phalanx of the 5th finger Thin upper lip vermilion

8q24.3 microdeletion syndrome (OMIM) 8q24.3 microdeletion syndrome (ORDO) Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome (ORDO)

Autosomal dominant inheritance

88
(83.1%)

FBN1

Downslanted palpebral fissures Micrognathia Short long bone Short thumb Thin upper lip vermilion

acromicric dysplasia (OMIM) ectopia lentis 1, isolated, autosomal dominant (OMIM) Marfan syndrome (OMIM) stiff skin syndrome (OMIM) MASS syndrome (OMIM) glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome (OMIM) Geleophysic dysplasia 2 (OMIM) progeroid and marfanoid aspect-lipodystrophy syndrome (OMIM) Isolated ectopia lentis (ORDO) Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome (ORDO) Shprintzen-Goldberg syndrome (ORDO) Stiff skin syndrome (ORDO) Neonatal Marfan syndrome (ORDO) Weill-Marchesani syndrome (ORDO) Familial thoracic aortic aneurysm and aortic dissection (ORDO) Acromicric dysplasia (ORDO)

Autosomal dominant inheritance Sporadic

93
(83.1%)

DHCR7

Aplasia/Hypoplasia of the radius Epicanthus Long philtrum Micrognathia Short thumb

Smith-Lemli-Opitz syndrome (OMIM) Smith-Lemli-Opitz syndrome (ORDO)

Autosomal recessive inheritance

94
(83.0%)

WNT5A

Broad thumb Epicanthus Median cleft lip and palate Micrognathia Short middle phalanx of the 5th finger

autosomal dominant Robinow syndrome 1 (OMIM) Autosomal dominant Robinow syndrome (ORDO)

Autosomal dominant inheritance

94
(83.0%)

DVL1

Broad thumb Epicanthus Median cleft lip and palate Micrognathia Short middle phalanx of the 5th finger

autosomal dominant Robinow syndrome 1 (OMIM) autosomal dominant Robinow syndrome 2 (OMIM) Autosomal dominant Robinow syndrome (ORDO)

Autosomal dominant inheritance

94
(83.0%)

DVL3

Broad thumb Epicanthus Median cleft lip and palate Micrognathia Short middle phalanx of the 5th finger

autosomal dominant Robinow syndrome 1 (OMIM) autosomal dominant Robinow syndrome 3 (OMIM) Autosomal dominant Robinow syndrome (ORDO)

Autosomal dominant inheritance

94
(83.0%)

MED12

Broad thumb Cleft upper lip Epicanthus Micrognathia Shortening of all distal phalanges of the fingers

blepharophimosis - intellectual disability syndrome, MKB type (OMIM) FG syndrome 1 (OMIM) X-linked intellectual disability with marfanoid habitus (OMIM) Blepharophimosis-intellectual disability syndrome, MKB type (ORDO) X-linked intellectual disability with marfanoid habitus (ORDO) X-linked non-syndromic intellectual disability (ORDO) FG syndrome type 1 (ORDO)

X-linked recessive inheritance

94
(83.0%)

OFD1

Central Y-shaped metacarpal Epicanthus Median cleft lip Microretrognathia Short finger

Simpson-Golabi-Behmel syndrome type 2 (OMIM) retinitis pigmentosa 23 (OMIM) Joubert syndrome 10 (OMIM) orofaciodigital syndrome I (OMIM) Primary ciliary dyskinesia (ORDO) Orofaciodigital syndrome type 1 (ORDO) Orofaciodigital syndrome type 6 (ORDO) Retinitis pigmentosa (ORDO)

X-linked recessive inheritance X-linked dominant inheritance Autosomal recessive inheritance Autosomal dominant inheritance Mitochondrial inheritance

99
(82.9%)

GLI3

Aplasia of the 2nd metacarpal Downslanted palpebral fissures Median cleft lip Microretrognathia Radial bowing

Pallister-hall syndrome (OMIM) polydactyly, postaxial, type A1 (OMIM) polysyndactyly 4 (OMIM) Greig cephalopolysyndactyly syndrome (OMIM) congenital hypothalamic hamartoma syndrome (OMIM) Acrocallosal syndrome (ORDO) Greig cephalopolysyndactyly syndrome (ORDO) Pallister-Hall syndrome (ORDO) Tibial hemimelia (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance Heterogeneous

100
(82.8%)

CCDC8

Hypoplasia of the ulna Long philtrum Micromelia Thick eyebrow

3M syndrome 3 (OMIM) 3M syndrome (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance