1 (100.0%)
|
postaxial acrofacial dysostosis
|
Cleft upper lip
Eyelid coloboma
Hypoplasia of the ulna
Micrognathia
Short thumb
Autosomal recessive inheritance
Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.
OMIM:263750
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Monarch
GTR:C0265257
|
2 (94.2%)
|
Nager acrofacial dysostosis
|
Aplasia/Hypoplasia of the thumb
Cleft upper lip
Hypoplasia of the radius
Lower eyelid coloboma
Micrognathia
Autosomal dominant inheritance
Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
OMIM:154400
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Monarch
KEGG:H01376
GTR:C0265245
|
3 (91.3%)
|
CHARGE syndrome
|
Cleft upper lip
Downslanted palpebral fissures
Hypoplasia of the ulna
Micrognathia
Short thumb
Autosomal dominant inheritance
Sporadic
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
OMIM:214800
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Monarch
KEGG:H00556
Gene Reviews
GTR:C0265354
|
4 (88.1%)
|
Diamond-Blackfan anemia 1
|
Cleft upper lip
Downslanted palpebral fissures
Hypoplasia of the radius
Micrognathia
Short thumb
Autosomal dominant inheritance
Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.
OMIM:105650
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Monarch
KEGG:H00237
Gene Reviews
GTR:C2676137
|
5 (87.9%)
|
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
|
Epicanthus
Hand monodactyly
Hypoplasia of the ulna
Micrognathia
U-Shaped upper lip vermilion
Autosomal dominant inheritance
OMIM:609945
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Monarch
GTR:C1864965
|
6 (87.6%)
|
Roberts-SC phocomelia syndrome
|
Cleft upper lip
Eyelid coloboma
Hand oligodactyly
Micrognathia
Autosomal recessive inheritance
A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.
OMIM:268300
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Monarch
KEGG:H00572
Gene Reviews
|
7 (87.1%)
|
Fraser syndrome 1
|
Aplasia/Hypoplasia of the sternum
Aplasia/Hypoplasia of the thumb
Cleft upper lip
Upper eyelid coloboma
Autosomal recessive inheritance
OMIM:219000
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Monarch
KEGG:H00687
|
8 (86.9%)
|
spondyloepiphyseal dysplasia with congenital joint dislocations
|
Hypoplasia of the ulna
Long philtrum
Short distal phalanx of finger
Sparse and thin eyebrow
Autosomal recessive inheritance
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
OMIM:143095
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Monarch
KEGG:H00762
Gene Reviews
|
9 (86.4%)
|
short ulna-dysmorphism-hypotonia-intellectual disability syndrome
|
Downslanted palpebral fissures
Hypoplasia of the ulna
Micrognathia
Thin upper lip vermilion
Autosomal recessive inheritance
OMIM:615162
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Monarch
GTR:C3554609
|
10 (85.5%)
|
Cornelia de Lange syndrome 1
|
Cleft upper lip
Hand oligodactyly
Hypoplasia of the radius
Long eyelashes
Micrognathia
Autosomal dominant inheritance
Sporadic
Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.
OMIM:122470
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Monarch
KEGG:H00631
Gene Reviews
GTR:CN029798
|
11 (85.5%)
|
SC phocomelia syndrome
|
Aplasia of the ulna
Cleft upper lip
Micrognathia
Short thumb
Autosomal recessive inheritance
OMIM:269000
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Monarch
Gene Reviews
|
12 (85.1%)
|
Baller-Gerold syndrome
|
Aplasia/Hypoplasia of the thumb
Cleft palate
Epicanthus
Hypoplasia of the ulna
Micrognathia
Autosomal recessive inheritance
Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).
OMIM:218600
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Monarch
KEGG:H01993
Gene Reviews
GTR:C0265308
|
13 (84.7%)
|
MOMO syndrome
|
Eyelid coloboma
Large hands
Short sternum
Smooth philtrum
Autosomal dominant inheritance
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
OMIM:157980
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Monarch
GTR:C1834759
|
14 (84.6%)
|
microphthalmia with cyst, bilateral facial clefts, and limb anomalies
|
Broad proximal phalanges of the hand
Cleft upper lip
Eyelid coloboma
Short foot
Sporadic
OMIM:607597
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Monarch
GTR:C1843492
|
15 (84.2%)
|
ulnar hypoplasia-split foot syndrome
|
Hypoplasia of the ulna
Short finger
Syndactyly
X-linked recessive inheritance
Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.
OMIM:314360
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Monarch
GTR:C1839123
|
15 (84.2%)
|
acromesomelic dysplasia, Hunter-Thompson type
|
Hypoplasia of the ulna
Short foot
Shortening of all middle phalanges of the fingers
Single transverse palmar crease
Autosomal recessive inheritance
Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.
OMIM:201250
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Monarch
|
15 (84.2%)
|
acromesomelic dysplasia, Demirhan type
|
Hypoplasia of the ulna
Hypoplasia of the uterus
Short finger
Short toe
Autosomal recessive inheritance
OMIM:609441
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Monarch
KEGG:H00468
|
18 (84.0%)
|
Wolf-Hirschhorn syndrome
|
Cleft upper lip
Epicanthus
Micrognathia
Radioulnar synostosis
Short thumb
Autosomal dominant inheritance
Sporadic
Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
OMIM:194190
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Monarch
KEGG:H01773
GTR:C0796117
GTR:C0796202
GTR:C1956097
GTR:CN207113
|
19 (83.9%)
|
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
|
Eyelid coloboma
Small hand
Thin upper lip vermilion
Autosomal dominant inheritance
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
OMIM:615873
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Monarch
Gene Reviews
GTR:C4014538
|
20 (83.9%)
|
congenital disorder of glycosylation type 1E
|
Downslanted palpebral fissures
Micrognathia
Short palm
Smooth philtrum
Upper limb undergrowth
Autosomal recessive inheritance
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.
OMIM:608799
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Monarch
|
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Monarch
KEGG:H02102
Gene Reviews
GTR:C0796081
|
41 (81.6%)
|
cranioectodermal dysplasia 1
|
Epicanthus
Everted lower lip vermilion
Fibular hypoplasia
Short distal phalanx of finger
Short ribs
Autosomal recessive inheritance
Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.
OMIM:218330
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Monarch
KEGG:H00529
Gene Reviews
|
42 (81.5%)
|
acrofrontofacionasal dysostosis
|
Cleft upper lip
Long eyelashes
Mandibular prognathia
Short distal phalanx of finger
Short metacarpal
Autosomal recessive inheritance
Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
OMIM:201180
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Monarch
GTR:C1860118
|
43 (81.5%)
|
X-linked lethal multiple pterygium syndrome
|
Cleft upper lip
Epicanthus
Micrognathia
Short finger
X-linked inheritance
X-linked form of lethal multiple pterygium syndrome.
OMIM:312150
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Monarch
GTR:C1839440
|
43 (81.5%)
|
Fryns syndrome
|
Blepharophimosis
Cleft upper lip
Microretrognathia
Short thumb
Autosomal recessive inheritance
Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.
OMIM:229850
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Monarch
Gene Reviews
GTR:C0220730
|
43 (81.5%)
|
branchiooculofacial syndrome
|
Cleft upper lip
Micrognathia
Short thumb
Telecanthus
Autosomal dominant inheritance
Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
OMIM:113620
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Monarch
KEGG:H00817
Gene Reviews
|
46 (81.4%)
|
Pallister-W syndrome
|
Downslanted palpebral fissures
Hypoplasia of the ulna
Submucous cleft hard palate
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.
OMIM:311450
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Monarch
GTR:C0796110
|
47 (81.4%)
|
complex lethal osteochondrodysplasia
|
Fractured radius
Micrognathia
Short femur
Telecanthus
Unilateral cleft lip
Autosomal recessive inheritance
OMIM:616897
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Monarch
KEGG:H02280
GTR:C4225162
|
48 (81.3%)
|
Weaver syndrome
|
Epicanthus
Large hands
Long philtrum
Short fourth metatarsal
Short ribs
Autosomal dominant inheritance
Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
OMIM:277590
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Monarch
KEGG:H01751
Gene Reviews
GTR:C0265210
GTR:CN036342
|
49 (81.0%)
|
Duane-radial ray syndrome
|
Epicanthus
Hypoplasia of the radius
Hypoplasia of the ulna
Short thumb
Autosomal dominant inheritance
A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.
OMIM:607323
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Monarch
KEGG:H00634
Gene Reviews
|
49 (81.0%)
|
Alagille syndrome due to a JAG1 point mutation
|
Hypoplasia of the ulna
Short distal phalanx of finger
Triangular face
Upslanted palpebral fissure
Autosomal dominant inheritance
OMIM:118450
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Monarch
KEGG:H00551
Gene Reviews
GTR:C1956125
GTR:CN202206
|
51 (81.0%)
|
Aarskog-Scott syndrome, X-linked
|
Cleft upper lip
Downslanted palpebral fissures
Hypoplasia of the odontoid process
Short 5th finger
Short palm
X-linked recessive inheritance
Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.
OMIM:305400
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Monarch
KEGG:H00569
|
51 (81.0%)
|
chromosome 1p36 deletion syndrome
|
11 pairs of ribs
Cleft upper lip
Epicanthus
Short 5th finger
Sporadic
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
OMIM:607872
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Monarch
KEGG:H01792
GTR:C1842870
|
53 (80.9%)
|
Smith-Lemli-Opitz syndrome
|
Epicanthus
Long philtrum
Micrognathia
Micromelia
Short thumb
Autosomal recessive inheritance
Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
OMIM:270400
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Monarch
KEGG:H00161
Gene Reviews
GTR:C0175694
|
54 (80.9%)
|
Neu-Laxova syndrome 1
|
Ablepharon
Cleft upper lip
Micrognathia
Micromelia
Radial deviation of finger
Autosomal recessive inheritance
Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.
OMIM:256520
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Monarch
KEGG:H02117
GTR:CN032230
|
55 (80.8%)
|
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
|
Broad thumb
Cleft upper lip
Short 5th finger
Upslanted palpebral fissure
Autosomal dominant inheritance
OMIM:600987
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Monarch
GTR:C1832950
|
55 (80.8%)
|
Simpson-Golabi-Behmel syndrome type 1
|
Broad thumb
Epicanthus
Short distal phalanx of finger
Short foot
Submucous cleft lip
X-linked recessive inheritance
Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.
OMIM:312870
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Monarch
KEGG:H01215
Gene Reviews
|
57 (80.8%)
|
nevoid basal cell carcinoma syndrome
|
Cleft upper lip
Orbital cyst
Short 4th metacarpal
Short distal phalanx of the thumb
Short ribs
Autosomal dominant inheritance
Heterogeneous
A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.
OMIM:109400
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KEGG:H00895
Gene Reviews
GTR:C0004779
|
58 (80.8%)
|
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
|
Aplasia/Hypoplasia of the thumb
Downslanted palpebral fissures
Fibular hypoplasia
Long philtrum
Ulnar bowing
Autosomal dominant inheritance
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.
OMIM:171480
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GTR:C1868390
|
59 (80.8%)
|
Marshall-Smith syndrome
|
Distal widening of metacarpals
Short distal phalanx of finger
Short mandibular rami
Short philtrum
Thick eyebrow
Autosomal dominant inheritance
Sporadic
Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.
OMIM:602535
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KEGG:H01834
GTR:C0265211
|
60 (80.7%)
|
syndromic X-linked intellectual disability Claes-Jensen type
|
Micrognathia
Short distal phalanx of finger
Thin upper lip vermilion
Upslanted palpebral fissure
X-linked recessive inheritance
OMIM:300534
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GTR:C1845243
GTR:C4304915
|
60 (80.7%)
|
multiple congenital anomalies-hypotonia-seizures syndrome 1
|
Epicanthus
Long philtrum
Micrognathia
Short distal phalanx of finger
Autosomal recessive inheritance
Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.
OMIM:614080
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KEGG:H01486
GTR:C3279775
|
60 (80.7%)
|
Cornelia de Lange syndrome 3
|
Long eyelashes
Micrognathia
Short 5th finger
Thin upper lip vermilion
Autosomal dominant inheritance
Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.
OMIM:610759
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Gene Reviews
GTR:C1853099
|
60 (80.7%)
|
Yunis-Varon syndrome
|
Micrognathia
Short finger
Short upper lip
Upslanted palpebral fissure
Autosomal recessive inheritance
Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
OMIM:216340
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KEGG:H02127
GTR:C1857663
|
60 (80.7%)
|
chromosome 15q24 deletion syndrome
|
Epicanthus
Microretrognathia
Short palm
Short thumb
Smooth philtrum
Autosomal dominant inheritance
Sporadic
15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.
OMIM:613406
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KEGG:H01861
GTR:C3150674
GTR:CN237818
|
60 (80.7%)
|
progeroid syndrome, Petty type
|
Downslanted palpebral fissures
Micrognathia
Short distal phalanx of finger
Thin upper lip vermilion
Autosomal dominant inheritance
Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.
OMIM:612289
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GTR:C2931653
|
66 (80.7%)
|
asphyxiating thoracic dystrophy 1
|
Hypoplasia of the ulna
Renal insufficiency
Short ribs
Autosomal recessive inheritance
An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
OMIM:208500
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Monarch
KEGG:H02157
GTR:CN119532
|
67 (80.5%)
|
atrioventricular defect-blepharophimosis-radial and anal defect syndrome
|
Aplasia of the 1st metacarpal
Blepharophimosis
Hypoplasia of the ulna
Micrognathia
Wide nasal bridge
Autosomal recessive inheritance
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
OMIM:600123
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GTR:C1838606
|
68 (80.5%)
|
microgastria-limb reduction defect syndrome
|
Cryptorchidism
Hand oligodactyly
Hypoplasia of the ulna
Sporadic
This syndrome is characterised by the association of microgastria with a limb reduction defect.
OMIM:156810
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Monarch
GTR:C1834929
|
69 (80.5%)
|
Sweeney-Cox syndrome
|
Long fingers
Micrognathia
Short philtrum
Upper eyelid coloboma
Autosomal dominant inheritance
OMIM:617746
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Monarch
GTR:C4540299
|
70 (80.5%)
|
acro-renal-mandibular syndrome
|
Epicanthus
Hypoplasia of the radius
Hypoplasia of the ulna
Micrognathia
Narrow palate
Autosomal recessive inheritance
Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.
OMIM:200980
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GTR:C1860166
|
71 (80.5%)
|
Peters plus syndrome
|
Cleft upper lip
Micrognathia
Short metatarsal
Short palm
Upslanted palpebral fissure
Autosomal recessive inheritance
Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.
OMIM:261540
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Monarch
Gene Reviews
GTR:C0796012
|
72 (80.4%)
|
microcephaly-micromelia syndrome
|
Absent radius
Cleft palate
Forearm undergrowth
Micrognathia
Short palpebral fissure
Autosomal recessive inheritance
OMIM:251230
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GTR:C1855079
|
72 (80.4%)
|
tarp syndrome
|
Cleft palate
Hypoplasia of the radius
Micrognathia
Short palpebral fissure
X-linked inheritance
X-linked recessive inheritance
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.
OMIM:311900
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KEGG:H00943
GTR:C1839463
|
72 (80.4%)
|
Seckel syndrome 1
|
Cleft palate
Downslanted palpebral fissures
Hypoplasia of proximal radius
Micrognathia
Autosomal recessive inheritance
Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.
OMIM:210600
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Monarch
KEGG:H00992
GTR:C1837590
GTR:CN033164
|
75 (80.3%)
|
orofaciodigital syndrome IV
|
Cleft palate
Epicanthus
Micrognathia
Short finger
Short tibia
Autosomal recessive inheritance
Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.
OMIM:258860
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Monarch
GTR:C0406727
|
76 (80.3%)
|
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
|
Cleft upper lip
Lower eyelid coloboma
Micrognathia
Autosomal recessive inheritance
Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.
OMIM:608572
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Monarch
KEGG:H01839
Gene Reviews
GTR:C1835913
|
76 (80.3%)
|
oculo-auriculo-vertebral spectrum
|
Cleft upper lip
Micrognathia
Upper eyelid coloboma
Autosomal dominant inheritance
OMIM:164210
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Monarch
GTR:C0265240
|
78 (80.2%)
|
Ulbright-Hodes syndrome
|
Aplasia of the ulna
Micrognathia
Narrow mouth
Short metacarpal
Thin vermilion border
Autosomal recessive inheritance
Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.
OMIM:266910
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Monarch
GTR:C1849438
|
79 (80.2%)
|
phocomelia, Schinzel type
|
Aplasia of the ulna
Congenital pseudoarthrosis of the clavicle
Epicanthus
Hand oligodactyly
Narrow palate
Autosomal recessive inheritance
Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.
OMIM:276820
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KEGG:H00847
|
80 (80.2%)
|
skeletal defects, genital hypoplasia, and intellectual disability
|
Absent thumb
Hypoplasia of the ulna
Narrow mouth
Thin vermilion border
Autosomal recessive inheritance
OMIM:612447
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Monarch
KEGG:H00969
GTR:C2676231
|
81 (80.1%)
|
lethal faciocardiomelic dysplasia
|
Hypoplasia of the ulna
Micrognathia
Narrow mouth
Short 5th finger
Autosomal recessive inheritance
Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.
OMIM:227270
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Monarch
GTR:C1856891
|
82 (80.1%)
|
hyperphosphatasia with intellectual disability syndrome 1
|
Cleft upper lip
Mandibular prognathia
Short distal phalanx of finger
Upslanted palpebral fissure
Autosomal recessive inheritance
Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.
OMIM:239300
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Monarch
KEGG:H01488
GTR:CN030519
|
83 (80.0%)
|
Temple-Baraitser syndrome
|
Broad thumb
Epicanthus
Long philtrum
Short distal phalanx of finger
Autosomal dominant inheritance
Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.
OMIM:611816
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Monarch
GTR:C2678486
|
84 (80.0%)
|
Fanconi anemia complementation group P
|
Blepharophimosis
Bulbous nose
Hypoplasia of the radius
Micrognathia
Short thumb
Autosomal recessive inheritance
Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.
OMIM:613951
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Monarch
Gene Reviews
|
85 (80.0%)
|
Richieri Costa-Pereira syndrome
|
Cleft lower alveolar ridge
Hypoplasia of the radius
Microretrognathia
Narrow mouth
Short thumb
Autosomal recessive inheritance
Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.
OMIM:268305
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GTR:C1849348
|
86 (79.9%)
|
LADD syndrome
|
Absence of Stensen duct
Absent proximal phalanx of thumb
Downslanted palpebral fissures
Hypoplasia of the radius
Hypoplasia of the ulna
Autosomal dominant inheritance
Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.
OMIM:149730
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KEGG:H00642
GTR:C0265269
|
87 (79.9%)
|
microphthalmia with limb anomalies
|
Cleft upper lip
Downslanted palpebral fissures
Fibular hypoplasia
Hand oligodactyly
Retrognathia
Autosomal recessive inheritance
Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
OMIM:206920
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Monarch
KEGG:H02134
Gene Reviews
|
88 (79.8%)
|
short-rib thoracic dysplasia 7 with or without polydactyly
|
Cleft palate
Epicanthus
Short distal phalanx of finger
Short long bone
Short ribs
Autosomal recessive inheritance
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
OMIM:614091
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GTR:C3279792
|
89 (79.8%)
|
Fanconi anemia complementation group O
|
Cryptorchidism
Hypoplasia of the radius
Short thumb
Autosomal recessive inheritance
Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.
OMIM:613390
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Monarch
Gene Reviews
GTR:C3150653
|
89 (79.8%)
|
IVIC syndrome
|
Carpal bone hypoplasia
Hypoplasia of the radius
Rectovaginal fistula
Short 1st metacarpal
Autosomal dominant inheritance
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
OMIM:147750
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Monarch
KEGG:H02283
GTR:C1327918
|
91 (79.7%)
|
multiple congenital anomalies-hypotonia-seizures syndrome 3
|
Abnormality of the dentition
Hypoplasia of the ulna
Long philtrum
Autosomal recessive inheritance
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.
OMIM:615398
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Monarch
GTR:C3809356
|
92 (79.7%)
|
Cohen syndrome
|
Downslanted palpebral fissures
Micrognathia
Short metacarpal
Short metatarsal
Short philtrum
Autosomal recessive inheritance
Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
OMIM:216550
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Monarch
KEGG:H00940
Gene Reviews
GTR:C1854061
|
92 (79.7%)
|
van Maldergem syndrome 2
|
Epicanthus
Micrognathia
Short 4th metacarpal
Short fourth metatarsal
Tented upper lip vermilion
Autosomal recessive inheritance
Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.
OMIM:615546
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Monarch
GTR:C3809875
|
92 (79.7%)
|
Andersen-Tawil syndrome
|
Blepharophimosis
Short mandibular rami
Short metatarsal
Short palm
Thin upper lip vermilion
Autosomal dominant inheritance
Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
OMIM:170390
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Monarch
KEGG:H00748
Gene Reviews
GTR:C1563715
|
92 (79.7%)
|
van Maldergem syndrome 1
|
Epicanthus
Micrognathia
Short 4th metacarpal
Short fourth metatarsal
Tented upper lip vermilion
Autosomal recessive inheritance
Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.
OMIM:601390
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Monarch
KEGG:H01393
|
92 (79.7%)
|
Cri-du-chat syndrome
|
Epicanthus
Microretrognathia
Short metacarpal
Short metatarsal
Short philtrum
Autosomal dominant inheritance
Sporadic
Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.
OMIM:123450
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Monarch
KEGG:H00764
GTR:C0010314
GTR:CN776901
|
97 (79.7%)
|
Meier-Gorlin syndrome 6
|
Downslanted palpebral fissures
Microretrognathia
Short middle phalanx of finger
Thick vermilion border
Autosomal dominant inheritance
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.
OMIM:616835
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Monarch
GTR:C4225188
|
97 (79.7%)
|
Kabuki syndrome 2
|
Epicanthus
Lower lip pit
Micrognathia
Short 5th finger
X-linked dominant inheritance
OMIM:300867
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Monarch
Gene Reviews
GTR:C3275495
|
99 (79.6%)
|
trichorhinophalangeal syndrome, type III
|
Short finger
Short foot
Short metatarsal
Sparse lateral eyebrow
Thin upper lip vermilion
Autosomal dominant inheritance
A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.
OMIM:190351
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Monarch
GTR:C1860823
|
99 (79.6%)
|
glycosylphosphatidylinositol biosynthesis defect 18
|
Deep philtrum
Highly arched eyebrow
Short distal phalanx of finger
Short fourth metatarsal
Autosomal recessive inheritance
OMIM:618143
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Monarch
|