21
(84.2%)

W syndrome

Downslanted palpebral fissures Hypoplasia of the ulna Upper lip pit

X-linked inheritance

W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.

22
(84.2%)

Omphalocele

Absent radius Cryptophthalmos Long philtrum Micrognathia Short femur

Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.

23
(84.2%)

Brachydactyly type A1

Brachydactyly Hypoplasia of the ulna Short foot Short middle phalanx of finger

Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.

24
(83.9%)

Wolf-Hirschhorn syndrome

Cleft upper lip Epicanthus Micrognathia Short long bone Short thumb

Autosomal dominant inheritance Sporadic

A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

25
(83.9%)

Branchioskeletogenital syndrome

Eyelid coloboma Mandibular prognathia Short philtrum Upper limb peromelia

Autosomal recessive inheritance

Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.

26
(83.9%)

Atelosteogenesis type II

Epicanthus Micrognathia Short metacarpal Thin upper lip vermilion Upper limb undergrowth

Autosomal recessive inheritance

A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.

27
(83.7%)

Duane retraction syndrome

Aplasia/Hypoplasia of the thumb Epicanthus inversus Everted lower lip vermilion Hypoplasia of the radius Micrognathia

A congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.

28
(83.6%)

Holoprosencephaly-radial heart renal anomalies syndrome

Aplasia/Hypoplasia of the thumb Hypoplasia of the ulna Median cleft lip Missing ribs

Autosomal dominant inheritance

Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.

29
(83.2%)

Mycophenolate mofetil embryopathy

Eyelid coloboma Micrognathia Oral cleft Short palm

Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.

30
(83.2%)

Cornelia de Lange syndrome

Blepharitis Long philtrum Micrognathia Radioulnar synostosis Short 1st metacarpal

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).