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.
OMIM:614527
Find images (Google)
Monarch
Gene Reviews
GTR:C3281138
GTR:C4518822
|
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.
OMIM:600920
Find images (Google)
Monarch
KEGG:H01886
GTR:C1833136
|
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.
OMIM:184705
Find images (Google)
Monarch
GTR:C1866649
|
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.
OMIM:269860
Find images (Google)
Monarch
GTR:C0432198
|
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.
OMIM:201050
Find images (Google)
Monarch
GTR:C1860145
|
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.
OMIM:614900
Find images (Google)
Monarch
Gene Reviews
GTR:C3554042
|
27 (82.9%)
|
Weyers ulnar ray/oligodactyly syndrome
|
Aplasia/Hypoplasia of the ulna
Cleft palate
Cleft upper lip
Hand oligodactyly
Micrognathia
Autosomal dominant inheritance
OMIM:602418
Find images (Google)
Monarch
GTR:C1865566
|
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.
OMIM:142900
Find images (Google)
Monarch
KEGG:H00433
Gene Reviews
GTR:C0265264
|
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.
OMIM:304120
Find images (Google)
Monarch
Gene Reviews
|
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.
OMIM:147791
Find images (Google)
Monarch
GTR:C0795841
|
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.
OMIM:200700
Find images (Google)
Monarch
KEGG:H00466
GTR:C0265260
|
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.
OMIM:180700
Find images (Google)
Monarch
Gene Reviews
|
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.
OMIM:268310
Find images (Google)
Monarch
KEGG:H00485
Gene Reviews
GTR:C1849334
|
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.
OMIM:613091
Find images (Google)
Monarch
KEGG:H00511
|
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.
OMIM:212720
Find images (Google)
Monarch
KEGG:H00797
Gene Reviews
GTR:C0796037
|
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
OMIM:602613
Find images (Google)
Monarch
GTR:C1865117
|
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.
OMIM:257920
Find images (Google)
Monarch
KEGG:H01887
GTR:C0796059
|
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.
OMIM:200110
Find images (Google)
Monarch
KEGG:H01932
GTR:C1860224
|
39 (81.8%)
|
Zechi-Ceide syndrome
|
Blepharophimosis
Cleft upper lip
Short distal phalanx of finger
Short metatarsal
Autosomal recessive inheritance
OMIM:612916
Find images (Google)
Monarch
GTR:C2752047
|
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.
OMIM:139210
Find images (Google)
Monarch
KEGG:H02102
Gene Reviews
GTR:C0796081
|