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.