20
(83.9%)

chromosome 17q12 deletion syndrome

Abnormality of upper lip Epicanthus Micrognathia Short palm Upper limb undergrowth

Autosomal dominant inheritance

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.

22
(83.8%)

van den Ende-Gupta syndrome

Blepharophimosis Distal ulnar hypoplasia Everted lower lip vermilion Hypoplasia of the maxilla

Autosomal recessive inheritance

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

23
(83.6%)

holoprosencephaly-radial heart renal anomalies syndrome

Aplasia/Hypoplasia of the thumb Bifid uvula Hypoplasia of the ulna Median cleft lip and palate 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.

24
(83.4%)

Beemer-Langer syndrome

Epicanthus Median cleft lip and palate Short finger Short long bone Short ribs

Autosomal recessive inheritance

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

25
(83.1%)

acrocraniofacial dysostosis

Downslanted palpebral fissures Micrognathia Short 1st metacarpal Short first metatarsal Short philtrum

Autosomal recessive inheritance

Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.

26
(82.9%)

Diamond-Blackfan anemia 11

Abnormal eyelid morphology Absent thumb Cleft palate Hypoplasia of the radius Hypoplasia of the ulna

Autosomal dominant inheritance

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.

27
(82.9%)

Weyers ulnar ray/oligodactyly syndrome

Aplasia/Hypoplasia of the ulna Cleft palate Cleft upper lip Hand oligodactyly Micrognathia

Autosomal dominant inheritance

28
(82.8%)

Holt-Oram syndrome

Absent thumb Hypoplasia of the ulna Pectus excavatum Short clavicles

Autosomal dominant inheritance

Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.

29
(82.7%)

otopalatodigital syndrome type 2

Cleft palate Downslanted palpebral fissures Micrognathia Radial bowing Short thumb

X-linked dominant inheritance

Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

30
(82.3%)

Jacobsen syndrome

Brachydactyly Eyelid coloboma Micrognathia U-Shaped upper lip vermilion

Sporadic

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

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.