501 (70.7%)
|
Aicardi syndrome
|
Cleft upper lip
Missing ribs
Proximal placement of thumb
Sparse lateral eyebrow
X-linked dominant inheritance
Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.
OMIM:304050
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Monarch
KEGG:H01776
Gene Reviews
GTR:C0175713
|
502 (70.7%)
|
chromosome 18q deletion syndrome
|
Cleft upper lip
Epicanthus
Mandibular prognathia
Proximal placement of thumb
Autosomal dominant inheritance
Sporadic
A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.
OMIM:601808
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Monarch
GTR:C0432443
|
503 (70.6%)
|
Geleophysic dysplasia 2
|
Short foot
Short palm
Thin upper lip vermilion
Autosomal dominant inheritance
Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.
OMIM:614185
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Monarch
Gene Reviews
GTR:C3280054
|
503 (70.6%)
|
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
|
Short foot
Small hand
Thin upper lip vermilion
Wide mouth
Autosomal dominant inheritance
IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).
OMIM:617450
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Monarch
GTR:C4479517
|
505 (70.6%)
|
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
|
Blepharitis
Cleft upper lip
Hand polydactyly
Hypoplasia of the maxilla
Autosomal dominant inheritance
Heterogeneous
An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.
OMIM:129900
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Monarch
|
506 (70.6%)
|
pseudohypoparathyroidism type 1A
|
Delayed eruption of teeth
Full cheeks
Short finger
Short metatarsal
Short toe
Autosomal dominant inheritance
Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).
OMIM:103580
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Monarch
KEGG:H00244
Gene Reviews
GTR:C2931404
GTR:C3494506
|
507 (70.6%)
|
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
|
High palate
Micrognathia
Overlapping fingers
Upslanted palpebral fissure
Autosomal recessive inheritance
OMIM:618142
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Monarch
|
507 (70.6%)
|
lethal arthrogryposis-anterior horn cell disease syndrome
|
Downslanted palpebral fissures
Hand clenching
High palate
Micrognathia
Autosomal recessive inheritance
OMIM:611890
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Monarch
KEGG:H01030
GTR:C2678471
|
507 (70.6%)
|
Galloway-Mowat syndrome 1
|
Epicanthus
Hand clenching
Micrognathia
Wide mouth
Autosomal recessive inheritance
OMIM:251300
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Monarch
KEGG:H01722
GTR:CN031715
|
510 (70.6%)
|
tall stature-intellectual disability-renal anomalies syndrome
|
Bowing of the legs
Epicanthus
Large hands
Macrocephaly
Thick vermilion border
Autosomal recessive inheritance
OMIM:617107
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Monarch
GTR:C4310715
|
511 (70.5%)
|
acroosteolysis-keloid-like lesions-premature aging syndrome
|
Brachydactyly
Micrognathia
Osteolytic defects of the phalanges of the hand
Thin vermilion border
Autosomal dominant inheritance
OMIM:601812
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Monarch
GTR:C1866182
|
512 (70.5%)
|
Meier-Gorlin syndrome 5
|
Long philtrum
Micrognathia
Patellar aplasia
Triangular face
Autosomal recessive inheritance
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.
OMIM:613805
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Monarch
GTR:C3151126
|
512 (70.5%)
|
Meier-Gorlin syndrome 2
|
Aplasia/Hypoplasia of the patella
Micrognathia
Narrow mouth
Smooth philtrum
Autosomal recessive inheritance
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.
OMIM:613800
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Monarch
GTR:C3151097
|
514 (70.5%)
|
Hirschsprung disease-type D brachydactyly syndrome
|
Aganglionic megacolon
Short thumb
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.
OMIM:306980
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Monarch
GTR:C1844017
|
514 (70.5%)
|
curved nail of fourth toe
|
Hyperconvex fingernails
Short distal phalanx of finger
Autosomal recessive inheritance
OMIM:219070
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Monarch
|
514 (70.5%)
|
congenital absence/hypoplasia of fingers excluding thumb, unilateral
|
Abnormality of the nail
Adactyly
Short thumb
Autosomal dominant inheritance
Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia).
OMIM:102650
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Monarch
|
514 (70.5%)
|
brachydactyly-long thumb syndrome
|
Brachydactyly
Short finger
Autosomal dominant inheritance
Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.
OMIM:112430
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Monarch
GTR:C1862169
|
514 (70.5%)
|
Sugarman brachydactyly
|
Brachydactyly
Short proximal phalanx of finger
Autosomal recessive inheritance
Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.
OMIM:272150
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Monarch
|
514 (70.5%)
|
syndactyly type 3
|
Absent middle phalanx of 5th finger
Short 5th finger
Autosomal dominant inheritance
Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.
OMIM:186100
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Monarch
GTR:C1861366
|
514 (70.5%)
|
heart-hand syndrome type 3
|
Brachydactyly
Short middle phalanx of finger
Autosomal dominant inheritance
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.
OMIM:140450
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Monarch
GTR:C1841657
|
514 (70.5%)
|
brachydactyly type A3
|
Clinodactyly of the 5th finger
Short middle phalanx of the 5th finger
Autosomal dominant inheritance
OMIM:112700
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Monarch
GTR:C1862140
|
514 (70.5%)
|
triphalangeal thumbs-brachyectrodactyly syndrome
|
Brachydactyly
Short 2nd finger
Short 3rd toe
Autosomal dominant inheritance
Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.
OMIM:190680
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Monarch
GTR:C1860804
|
514 (70.5%)
|
osteodysplasty, precocious, of Danks, Mayne, and Kozlowski
|
Growth delay
Short finger
Short toe
Autosomal recessive inheritance
OMIM:259270
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Monarch
GTR:C1850185
|
514 (70.5%)
|
brachydactyly type A4
|
Short middle phalanx of the 5th finger
Autosomal dominant inheritance
Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.
OMIM:112800
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Monarch
|
514 (70.5%)
|
upper limb defect-eye and ear abnormalities syndrome
|
Cryptorchidism
Short thumb
Autosomal recessive inheritance
Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.
OMIM:274205
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Monarch
GTR:C1848816
|
514 (70.5%)
|
Fanconi anemia complementation group T
|
Short thumb
Thrombocytopenia
Autosomal recessive inheritance
Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.
OMIM:616435
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Monarch
Gene Reviews
GTR:C4084840
|
514 (70.5%)
|
Fanconi anemia complementation group J
|
Microphthalmia
Short thumb
Autosomal recessive inheritance
Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.
OMIM:609054
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Monarch
Gene Reviews
GTR:C1836860
|
514 (70.5%)
|
familial digital arthropathy-brachydactyly
|
Short distal phalanx of toe
Short middle phalanx of finger
Autosomal dominant inheritance
Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.
OMIM:606835
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Monarch
KEGG:H02062
GTR:C1847406
|
514 (70.5%)
|
brachydactyly type A1D
|
Delayed speech and language development
Short middle phalanx of the 5th finger
Autosomal dominant inheritance
Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.
OMIM:616849
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Monarch
GTR:C4225183
|
514 (70.5%)
|
brachydactyly type A1C
|
Brachydactyly
Short middle phalanx of the 5th finger
Autosomal dominant inheritance
Autosomal recessive inheritance
Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.
OMIM:615072
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Monarch
GTR:C3554446
|
514 (70.5%)
|
septooptic dysplasia
|
Optic nerve hypoplasia
Short finger
Autosomal dominant inheritance
Autosomal recessive inheritance
Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
OMIM:182230
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Monarch
KEGG:H00544
Gene Reviews
GTR:C0338503
|
514 (70.5%)
|
osteochondrodysplasia, brachydactyly, and overlapping malformed digits
|
Pectus excavatum
Short thumb
Autosomal recessive inheritance
OMIM:618167
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|
514 (70.5%)
|
brachydactyly type A2
|
Hallux valgus
Short middle phalanx of the 5th finger
Autosomal dominant inheritance
Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.
OMIM:112600
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Monarch
|
514 (70.5%)
|
optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
|
Progressive sensorineural hearing impairment
Short thumb
Autosomal recessive inheritance
X-linked recessive inheritance
OMIM:258650
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Monarch
|
535 (70.4%)
|
pseudodiastrophic dysplasia
|
Malar flattening
Micrognathia
Phalangeal dislocation
Rhizomelia
Smooth philtrum
Autosomal recessive inheritance
Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.
OMIM:264180
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Monarch
GTR:C0432206
|
536 (70.4%)
|
Rapp-Hodgkin syndrome
|
Absent lacrimal punctum
Cleft upper lip
Hypoplasia of the maxilla
Syndactyly
Autosomal dominant inheritance
A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.
OMIM:129400
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Monarch
Gene Reviews
GTR:CN203427
|
537 (70.3%)
|
Silver-Russell syndrome 1
|
Downturned corners of mouth
Micrognathia
Short middle phalanx of the 5th finger
Triangular face
Autosomal dominant inheritance
Sporadic
OMIM:180860
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Monarch
KEGG:H00711
Gene Reviews
GTR:C0175693
|
538 (70.3%)
|
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
|
Brachydactyly
Broad thumb
Thin upper lip vermilion
Upslanted palpebral fissure
Autosomal recessive inheritance
OMIM:617763
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Monarch
GTR:C4540367
|
539 (70.3%)
|
X-linked intellectual disability, Cabezas type
|
Mandibular prognathia
Small hand
Thick lower lip vermilion
Wide mouth
X-linked recessive inheritance
X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.
OMIM:300354
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Monarch
GTR:C1845845
GTR:C1845861
|
540 (70.3%)
|
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
|
Broad thumb
Downslanted palpebral fissures
Micrognathia
Narrow palate
Autosomal dominant inheritance
Sporadic
Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.
OMIM:613684
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Monarch
Gene Reviews
GTR:C3150941
|
540 (70.3%)
|
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
|
Broad thumb
Clinodactyly of the 5th finger
Downslanted palpebral fissures
High palate
Micrognathia
Somatic mosaicism
Autosomal dominant contiguous gene syndrome
Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.
OMIM:610543
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Monarch
GTR:C1864648
|
540 (70.3%)
|
Rubinstein-Taybi syndrome due to CREBBP mutations
|
Broad thumb
Epicanthus
Micrognathia
Narrow mouth
Prominent fingertip pads
Autosomal dominant inheritance
Heterogeneous
Sporadic
Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.
OMIM:180849
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Monarch
KEGG:H00504
Gene Reviews
|
543 (70.3%)
|
Hallermann-Streiff syndrome
|
Abnormality of the hand
Downslanted palpebral fissures
Everted lower lip vermilion
Metaphyseal widening
Micrognathia
Sporadic
Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
OMIM:234100
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Monarch
GTR:C0018522
|
544 (70.2%)
|
asphyxiating thoracic dystrophy 4
|
Brachydactyly
Retinal degeneration
Short long bone
Short ribs
Autosomal recessive inheritance
An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
OMIM:613819
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Monarch
GTR:C3151185
|
545 (70.2%)
|
SCARF syndrome
|
Epicanthus
Long philtrum
Short sternum
X-linked recessive inheritance
SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.
OMIM:312830
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Monarch
GTR:C1839321
|
546 (70.2%)
|
2q37 microdeletion syndrome
|
Blepharophimosis
Malar flattening
Short metacarpal
Short metatarsal
Short toe
Autosomal dominant inheritance
Somatic mutation
Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
OMIM:600430
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Monarch
KEGG:H00561
GTR:C2931817
|
547 (70.2%)
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
Abnormality of the hand
Hand oligodactyly
obsolete Shortening of the tibia
Autosomal dominant inheritance
Sporadic
OMIM:246570
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Monarch
GTR:C1855499
|
548 (70.2%)
|
Cornelia de Lange syndrome 4
|
Brachydactyly
Microcephaly
Thick eyebrow
Thin upper lip vermilion
Autosomal dominant inheritance
Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.
OMIM:614701
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Monarch
Gene Reviews
GTR:C3553517
|
549 (70.2%)
|
radio-renal syndrome
|
Absent radius
Absent thumb
Ectopic kidney
Autosomal dominant inheritance
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.
OMIM:179280
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Monarch
GTR:C2931146
|
549 (70.2%)
|
VACTERL with hydrocephalus
|
Absent thumb
Radial club hand
Renal hypoplasia
Autosomal recessive inheritance
VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.
OMIM:276950
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Monarch
KEGG:H01195
GTR:C1848599
|
549 (70.2%)
|
Fanconi anemia complementation group B
|
Absent radius
Absent thumb
Renal agenesis
X-linked recessive inheritance
Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.
OMIM:300514
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Monarch
Gene Reviews
GTR:C1845292
|
552 (70.1%)
|
Singleton-Merten syndrome 1
|
Expanded phalanges with widened medullary cavities
Hypoplasia of the maxilla
Smooth philtrum
Autosomal dominant inheritance
Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.
OMIM:182250
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Monarch
KEGG:H01571
GTR:C4225427
|
553 (70.1%)
|
spondylocarpotarsal synostosis syndrome
|
Bowed humerus
Brachydactyly
Cleft palate
Hypoplasia of the odontoid process
Autosomal recessive inheritance
Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.
OMIM:272460
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Monarch
KEGG:H00499
Gene Reviews
GTR:C1848934
|
554 (70.1%)
|
WT limb-blood syndrome
|
Micrognathia
Radioulnar synostosis
Retrognathia
Short thumb
Autosomal dominant inheritance
WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.
OMIM:194350
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Monarch
GTR:C1327917
|
555 (70.1%)
|
osteogenesis imperfecta type 13
|
Arachnodactyly
Dislocated radial head
Long eyelashes
Long philtrum
Wormian bones
Autosomal recessive inheritance
Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.
OMIM:614856
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Monarch
GTR:C3553887
|
556 (70.1%)
|
asphyxiating thoracic dystrophy 5
|
Brachydactyly
Rhizomelia
Short foot
Thin upper lip vermilion
Autosomal recessive inheritance
Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.
OMIM:614376
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Monarch
GTR:C3280598
|
556 (70.1%)
|
geleophysic dysplasia 3
|
Brachydactyly
Limb undergrowth
Long philtrum
Round face
Short foot
Autosomal dominant inheritance
OMIM:617809
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Monarch
Gene Reviews
|
558 (70.0%)
|
ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
|
Aplasia/Hypoplasia of the distal phalanges of the toes
Downslanted palpebral fissures
Submucous cleft hard palate
Autosomal dominant inheritance
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.
OMIM:192445
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Monarch
|
559 (70.0%)
|
odontotrichomelic syndrome
|
Cleft upper lip
Nasolacrimal duct obstruction
Tetraamelia
Autosomal recessive inheritance
Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.
OMIM:273400
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Monarch
GTR:CN074199
|
560 (70.0%)
|
spondyloepimetaphyseal dysplasia, Shohat type
|
Micromelia
Short femoral neck
Short ribs
Thin vermilion border
Autosomal recessive inheritance
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
OMIM:602557
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Monarch
GTR:C1865185
|
561 (70.0%)
|
Hartsfield-Bixler-Demyer syndrome
|
Cleft upper lip
Epicanthus
Hypoplasia of the frontal bone
Syndactyly
Autosomal dominant inheritance
OMIM:615465
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Monarch
KEGG:H01850
Gene Reviews
GTR:C1845146
|
562 (69.9%)
|
acromesomelic dysplasia, Maroteaux type
|
Frontal bossing
Hypoplasia of the radius
Short metacarpal
Short toe
Autosomal recessive inheritance
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.
OMIM:602875
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Monarch
KEGG:H00470
|
563 (69.9%)
|
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
|
Blepharophimosis
Cutaneous finger syndactyly
Mandibular prognathia
Thick lower lip vermilion
Autosomal recessive inheritance
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.
OMIM:210745
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Monarch
|
564 (69.9%)
|
fine-Lubinsky syndrome
|
Brachydactyly
Downslanted palpebral fissures
Malar flattening
Tapered finger
Thin upper lip vermilion
Autosomal recessive inheritance
Sporadic
Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.
OMIM:601353
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Monarch
GTR:C0795941
|
565 (69.9%)
|
Armfield syndrome
|
Abnormal hand morphology
Cleft palate
Short foot
Small hand
X-linked inheritance
X-linked recessive inheritance
X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.
OMIM:300261
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Monarch
GTR:C1846057
|
566 (69.9%)
|
intellectual developmental disorder with hypertelorism and distinctive facies
|
Long palpebral fissure
Long philtrum
Narrow jaw
Tapered finger
Autosomal dominant inheritance
OMIM:618147
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Monarch
|
566 (69.9%)
|
PEHO syndrome
|
Epicanthus
Retrognathia
Tapered finger
Tented upper lip vermilion
Autosomal recessive inheritance
PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.
OMIM:260565
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Monarch
KEGG:H02252
GTR:C1850055
|
566 (69.9%)
|
alpha thalassemia-intellectual disability syndrome type 1
|
Epicanthus
Long philtrum
Radial deviation of finger
Retrognathia
Autosomal dominant inheritance
Contiguous gene syndrome
Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
OMIM:141750
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Monarch
KEGG:H00228
GTR:C0475813
GTR:C0795917
|
566 (69.9%)
|
intellectual disability, Buenos-Aires type
|
Clinodactyly of the 5th finger
Downslanted palpebral fissures
Mandibular prognathia
Thin upper lip vermilion
Autosomal recessive inheritance
Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.
OMIM:249630
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Monarch
GTR:C0796080
|
566 (69.9%)
|
8q22.1 microdeletion syndrome
|
Blepharophimosis
Retrognathia
Tapered finger
Thin upper lip vermilion
Autosomal dominant inheritance
Autosomal recessive inheritance
Sporadic
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
OMIM:608156
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Monarch
GTR:C1842464
|
566 (69.9%)
|
blepharophimosis - intellectual disability syndrome, Verloes type
|
Adducted thumb
Retrognathia
Smooth philtrum
Telecanthus
Autosomal recessive inheritance
OMIM:604314
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Monarch
GTR:C1858538
|
566 (69.9%)
|
Rienhoff syndrome
|
Arachnodactyly
Downslanted palpebral fissures
Retrognathia
Smooth philtrum
Autosomal dominant inheritance
Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.
OMIM:615582
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Monarch
KEGG:H01385
Gene Reviews
GTR:C3810012
|
566 (69.9%)
|
chromosome 2p16.1-p15 deletion syndrome
|
Arachnodactyly
Epicanthus
Retrognathia
Thin upper lip vermilion
Sporadic
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
OMIM:612513
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Monarch
GTR:C2675875
GTR:C4304538
|
566 (69.9%)
|
freeman-Sheldon syndrome
|
Adducted thumb
Epicanthus
Long philtrum
Mandibular prognathia
Autosomal dominant inheritance
Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.
OMIM:193700
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Monarch
GTR:C0265224
|
575 (69.9%)
|
RAB23-related Carpenter syndrome
|
Aplasia/Hypoplasia of the middle phalanges of the toes
Brachydactyly
Epicanthus
High palate
Micrognathia
Autosomal recessive inheritance
Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.
OMIM:201000
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Monarch
KEGG:H01888
|
576 (69.9%)
|
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
|
Blepharitis
Cleft upper lip
Hypoplasia of the maxilla
Split hand
Autosomal dominant inheritance
Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.
OMIM:604292
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Monarch
KEGG:H00638
Gene Reviews
|
577 (69.7%)
|
Barber-Say syndrome
|
Micrognathia
Telecanthus
Thin vermilion border
Autosomal dominant inheritance
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
OMIM:209885
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Monarch
KEGG:H01934
GTR:C1319466
|
577 (69.7%)
|
deafness-intellectual disability, Martin-Probst type syndrome
|
Epicanthus
Micrognathia
Thick lower lip vermilion
X-linked recessive inheritance
Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.
OMIM:300519
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Monarch
|
577 (69.7%)
|
gapo syndrome
|
Micrognathia
Sparse eyelashes
Thick lower lip vermilion
Autosomal recessive inheritance
GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations
OMIM:230740
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Monarch
|
580 (69.6%)
|
tricho-retino-dento-digital syndrome
|
Oligodontia
Short metacarpal
Short proximal phalanx of finger
Short toe
Autosomal dominant inheritance
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.
OMIM:191482
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Monarch
GTR:C1860605
|
580 (69.6%)
|
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
|
Dental malocclusion
Rhizomelia
Short finger
Short metacarpal
Autosomal recessive inheritance
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
OMIM:608940
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Monarch
KEGG:H01821
GTR:C1837073
|
582 (69.6%)
|
Xq27.3q28 duplication syndrome
|
Short foot
Small hand
Thin vermilion border
X-linked recessive inheritance
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
OMIM:300869
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Monarch
GTR:C3275521
|
582 (69.6%)
|
developmental and epileptic encephalopathy, 2
|
Short foot
Short palm
Thick lower lip vermilion
X-linked dominant inheritance
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.
OMIM:300672
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Monarch
GTR:C1839333
|
584 (69.6%)
|
MGAT2-CDG
|
Downslanted palpebral fissures
Everted lower lip vermilion
Proximal placement of thumb
Retrognathia
Slender long bone
Autosomal recessive inheritance
MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).
OMIM:212066
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Monarch
KEGG:H00119
Gene Reviews
GTR:C2931008
|
585 (69.5%)
|
humerus trochlea aplasia
|
Cleft palate
Short humerus
Autosomal dominant inheritance
Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.
OMIM:191000
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Monarch
GTR:C1860773
|
586 (69.5%)
|
Meier-Gorlin syndrome 4
|
Micrognathia
Narrow mouth
Patellar aplasia
Thick lower lip vermilion
Autosomal recessive inheritance
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.
OMIM:613804
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Monarch
GTR:C3151120
|
587 (69.5%)
|
cartilage-hair hypoplasia
|
Hypoplasia of the odontoid process
Short palm
Sparse and thin eyebrow
Sparse eyelashes
Autosomal recessive inheritance
Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.
OMIM:250250
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Monarch
KEGG:H01966
Gene Reviews
GTR:C0220748
|
588 (69.4%)
|
Sotos syndrome 1
|
Downslanted palpebral fissures
Genu valgum
High, narrow palate
Large hands
Mandibular prognathia
Autosomal dominant inheritance
Sporadic
Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene.
OMIM:117550
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Monarch
KEGG:H00718
Gene Reviews
GTR:CN035106
|
589 (69.4%)
|
pseudoleprechaunism syndrome, Patterson type
|
Hypoplasia of the odontoid process
Large hands
Prominent nose
Short long bone
Sporadic
Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.
OMIM:169170
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Monarch
GTR:C1868546
|
590 (69.4%)
|
intellectual developmental disorder with cardiac defects and dysmorphic facies
|
Macrocephaly
Overlapping fingers
Synophrys
Thin upper lip vermilion
Autosomal recessive inheritance
OMIM:618316
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|
591 (69.4%)
|
Shprintzen-Goldberg syndrome
|
Arachnodactyly
Dislocated radial head
Downslanted palpebral fissures
Micrognathia
Narrow palate
Autosomal dominant inheritance
Sporadic
Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
OMIM:182212
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Monarch
KEGG:H00659
Gene Reviews
GTR:C1321551
|
592 (69.4%)
|
Rothmund-Thomson syndrome type 2
|
Delayed eruption of teeth
Forearm reduction defects
Mandibular prognathia
Short thumb
Autosomal recessive inheritance
Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
OMIM:268400
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Monarch
KEGG:H01734
Gene Reviews
GTR:C0032339
|
593 (69.3%)
|
Skraban-Deardorff syndrome
|
Micrognathia
Sparse lateral eyebrow
Thick upper lip vermilion
Autosomal dominant inheritance
OMIM:617616
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Monarch
Gene Reviews
GTR:C4539927
|
594 (69.3%)
|
Ehlers-Danlos syndrome, progeroid type 1
|
Arachnodactyly
Cleft palate
Narrow mouth
Radioulnar synostosis
Short clavicles
Autosomal recessive inheritance
OMIM:130070
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Monarch
KEGG:H02239
|
595 (69.3%)
|
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
|
High palate
Micrognathia
Short long bone
Short metacarpal
Autosomal recessive inheritance
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
OMIM:271665
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Monarch
KEGG:H00777
GTR:C1849011
|
596 (69.3%)
|
Nestor-Guillermo progeria syndrome
|
Abnormality of the forearm
Dental crowding
Micrognathia
Osteolytic defects of the distal phalanges of the hand
Sparse eyelashes
Autosomal recessive inheritance
OMIM:614008
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Monarch
KEGG:H01883
GTR:C3151446
|
597 (69.3%)
|
chromosome 17p13.1 deletion syndrome
|
Epicanthus
High palate
Short foot
Short palm
Autosomal dominant inheritance
Contiguous gene syndrome
OMIM:613776
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Monarch
GTR:C3151069
|
598 (69.3%)
|
hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
|
Brachydactyly
Epicanthus
High palate
Mandibular prognathia
Autosomal dominant inheritance
X-linked dominant inheritance
This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
OMIM:600991
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Monarch
|
599 (69.2%)
|
Mietens syndrome
|
Forearm undergrowth
Narrow nose
Autosomal recessive inheritance
Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
OMIM:249600
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Monarch
GTR:C0265249
|
600 (69.2%)
|
hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
|
Anteverted nares
Upper limb undergrowth
Autosomal recessive inheritance
OMIM:613124
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Monarch
GTR:C2751073
|