7
(90.5%)

FGFR2

Epicanthus Hypoplasia of the ulna Long philtrum Micrognathia Shortening of all middle phalanges of the fingers

apert syndrome (OMIM) Saethre-Chotzen syndrome (OMIM) Pfeiffer syndrome (OMIM) Jackson-Weiss syndrome (OMIM) Crouzon syndrome (OMIM) Beare-Stevenson cutis gyrata syndrome (OMIM) LADD syndrome (OMIM) Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (OMIM) familial scaphocephaly syndrome, McGillivray type (OMIM) gastric cancer (OMIM) FGFR2-related bent bone dysplasia (OMIM) Jackson-Weiss syndrome (ORDO) Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome (ORDO) Familial scaphocephaly syndrome, McGillivray type (ORDO) Crouzon disease (ORDO) FGFR2-related bent bone dysplasia (ORDO) Saethre-Chotzen syndrome (ORDO) Antley-Bixler syndrome (ORDO) Apert syndrome (ORDO) Pfeiffer syndrome type 1 (ORDO) Pfeiffer syndrome type 2 (ORDO) Pfeiffer syndrome type 3 (ORDO)

Autosomal dominant inheritance Somatic mutation

12
(90.0%)

RIPK4

Absent thumb Eyelid coloboma Median cleft lip Micrognathia Short fifth metatarsal

CHAND syndrome (OMIM) Bartsocas-Papas syndrome (OMIM) Bartsocas-Papas syndrome (ORDO) CHAND syndrome (ORDO)

Autosomal recessive inheritance

13
(90.0%)

FLNB

Aplasia/Hypoplasia of the ulna Cleft upper lip Micrognathia Short distal phalanx of finger Telecanthus

atelosteogenesis type I (OMIM) atelosteogenesis type III (OMIM) Boomerang dysplasia (OMIM) Larsen syndrome (OMIM) spondylocarpotarsal synostosis syndrome (OMIM) Atelosteogenesis type I (ORDO) Boomerang dysplasia (ORDO) Larsen syndrome (ORDO) Atelosteogenesis type III (ORDO)

Autosomal dominant inheritance Sporadic Autosomal recessive inheritance

14
(89.8%)

CCNQ

Eyelid coloboma Hypoplasia of the radius Thin upper lip vermilion

syndactyly-telecanthus-anogenital and renal malformations syndrome (OMIM) Syndactyly-telecanthus-anogenital and renal malformations syndrome (ORDO)

X-linked dominant inheritance

15
(89.5%)

SALL4

Epicanthus Everted lower lip vermilion Hypoplasia of the ulna Micrognathia Short distal phalanx of the thumb

IVIC syndrome (OMIM) Duane-radial ray syndrome (OMIM) IVIC syndrome (ORDO) Duane retraction syndrome (ORDO) Acro-renal-ocular syndrome (ORDO)

Autosomal dominant inheritance

16
(89.4%)

SLC25A24

Micrognathia Short distal phalanx of finger Thin upper lip vermilion Upper eyelid coloboma

progeroid syndrome, Petty type (OMIM) Gorlin-Chaudhry-Moss syndrome (ORDO) Progeroid syndrome, Petty type (ORDO)

Autosomal dominant inheritance

17
(89.3%)

KRAS

Cleft upper lip Eyelid coloboma Micrognathia Radioulnar synostosis Short palm

arteriovenous malformations of the brain (OMIM) urinary bladder cancer (OMIM) hereditary breast carcinoma (OMIM) hereditary diffuse gastric adenocarcinoma (OMIM) linear nevus sebaceus syndrome (OMIM) lung cancer (OMIM) familial pancreatic carcinoma (OMIM) Toriello-Lacassie-Droste syndrome (OMIM) acute myeloid leukemia (OMIM) Noonan syndrome 3 (OMIM) autoimmune lymphoproliferative syndrome type 4 (OMIM) cardiofaciocutaneous syndrome 2 (OMIM) Familial pancreatic carcinoma (ORDO) Cardiofaciocutaneous syndrome (ORDO) Lynch syndrome (ORDO) Encephalocraniocutaneous lipomatosis (ORDO) Linear nevus sebaceus syndrome (ORDO) Toriello-Lacassie-Droste syndrome (ORDO) Noonan syndrome (ORDO)

Somatic mutation Autosomal dominant inheritance Somatic mosaicism Sporadic Autosomal recessive inheritance

18
(88.6%)

CUL7

Hypoplasia of the ulna Long philtrum Short 5th finger Short ribs Thick eyebrow

3M syndrome 1 (OMIM) 3M syndrome (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance

19
(88.1%)

RPS19

Cleft upper lip Epicanthus Hypoplasia of the radius Micrognathia Short thumb

Diamond-Blackfan anemia 1 (OMIM) Blackfan-Diamond anemia (ORDO)

Autosomal dominant inheritance

19
(88.1%)

NIPBL

Blepharitis Cleft upper lip Hypoplasia of the radius Micrognathia Short 1st metacarpal

Cornelia de Lange syndrome 1 (OMIM) Cornelia de Lange syndrome (ORDO)

Autosomal dominant inheritance Sporadic