Cytoscape Web
Click node...

Brachydactyly type B
1 OMIM reference -
1 associated gene
9 connected diseases
12 signs/symptoms
Disease Type of connection
Autosomal recessive Robinow syndrome
Idiopathic juvenile osteoporosis
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Autosomal dominant Robinow syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ROR2 Q01974602337
Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal dominant inheritance
- Distal phalangeal bones of toes hypoplasia / absence
- Metacarpal anomalies / Archibald's sign
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Terminal / third phalangeal bone of fingers hypoplasia

Occasional
- Broad / bifid big toe
- Broad / bifid thumb
- Carpal bones fusion / synostosis
- Symphalangy of fingers
- Syndactyly of fingers / interdigital palm