31
(82.3%)

acromesomelic dysplasia, Grebe type

Hypoplasia of the ulna Postaxial hand polydactyly Short foot Valgus hand deformity

Autosomal recessive inheritance

Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.

32
(82.2%)

autosomal dominant Robinow syndrome 1

Broad thumb Epicanthus Micrognathia Short middle phalanx of the 5th finger Thin upper lip vermilion

Autosomal dominant inheritance

Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.

32
(82.2%)

autosomal recessive Robinow syndrome

Aplasia/Hypoplasia involving the metacarpal bones Downslanted palpebral fissures Micrognathia Short middle phalanx of the 5th finger Thin upper lip vermilion

Autosomal recessive inheritance

Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.

34
(82.1%)

asphyxiating thoracic dystrophy 3

Cleft palate Cleft upper lip Hypoplasia of the ulna Short ribs

Autosomal recessive inheritance Digenic inheritanec

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.

35
(82.1%)

cataract-intellectual disability-hypogonadism syndrome

Epicanthus Micrognathia Short palm Short philtrum Slender ulna

Autosomal recessive inheritance

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

36
(81.8%)

skeletal dysplasia and progressive central nervous system degeneration, lethal

Hypoplasia of the radius Hypoplasia of the ulna Long philtrum Malar flattening Micrognathia

Autosomal recessive inheritance

37
(81.8%)

3MC syndrome 1

Cleft upper lip Epicanthus inversus Radioulnar synostosis Short 5th finger Short foot

Autosomal recessive inheritance

Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.

38
(81.8%)

ablepharon macrostomia syndrome

Cryptophthalmos Short metacarpal Short upper lip

Autosomal dominant inheritance

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.

39
(81.8%)

Zechi-Ceide syndrome

Blepharophimosis Cleft upper lip Short distal phalanx of finger Short metatarsal

Autosomal recessive inheritance

40
(81.7%)

Myhre syndrome

Blepharophimosis Mandibular prognathia Short finger Short long bone Thin upper lip vermilion

Autosomal dominant inheritance

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.