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Brachydactyly type C
1 OMIM reference -
2 associated genes
53 connected diseases
11 signs/symptoms
Disease Type of connection
Brachydactyly type A2
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Fibular aplasia - complex brachydactyly
Multiple synostoses syndrome
Proximal symphalangism
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Juvenile polyposis of infancy
14q22q23 microdeletion syndrome
Microphthalmia with brain and digit anomalies
20p12.3 microdeletion syndrome
Colobomatous microphthalmia
Isolated Klippel-Feil syndrome
Leber congenital amaurosis
Fibrodysplasia ossificans progressiva
Situs ambiguus
Autosomal dominant hypohidrotic ectodermal dysplasia
Estrogen resistance syndrome
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked lymphoproliferative disease
CARASIL
Duane retraction syndrome
Fanconi anemia
Giant cell glioblastoma
Gliosarcoma
Neurofibromatosis type 3
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
46,XX gonadal dysgenesis
Amish nemaline myopathy
Amyotrophic lateral sclerosis
Dedifferentiated liposarcoma
Familial melanoma
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Microcephaly-capillary malformation syndrome
Multiple keratoacanthoma, Ferguson-Smith type
Persistent Müllerian duct syndrome
Walker-Warburg syndrome
Well-differentiated liposarcoma
X-linked non-syndromic intellectual deficit
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537093
Gene symbol UniProt reference OMIM reference
BMPR1B O00238603248
GDF5 P43026601146
Very frequent
- Autosomal dominant inheritance
- Metacarpal anomalies / Archibald's sign
- Short hand / brachydactyly
- Ulnar deviation of fingers

Frequent
- Cone epiphyses / epiphysis
- Short foot / brachydactyly of toes
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Clinodactyly of fifth finger
- Short stature / dwarfism / nanism
- Symphalangy of fingers
- Talipes-valgus