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Brachydactyly type E
2 OMIM references -
2 associated genes
13 connected diseases
8 signs/symptoms
Disease Type of connection
Brachydactyly-syndactyly, Zhao type
Syndactyly type 5
Synpolydactyly type 1
VACTERL / VATER association
Chondrodysplasia, Blomstrand type
Dental ankylosis
Eiken syndrome
Enchondromatosis
Metaphyseal chondrodysplasia, Jansen type
Systemic-onset juvenile idiopathic arthritis
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
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:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
HOXD13 P35453142989
PTHLH P12272168470
Very frequent
- Autosomal dominant inheritance
- Metacarpal anomalies / Archibald's sign

Frequent
- Hyperextensible joints / articular hyperlaxity
- Short stature / dwarfism / nanism
- Terminal / third phalangeal bone of fingers hypoplasia

Occasional
- Frontal bossing / prominent forehead
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Upper limb asymmetry / hemiatrophy / hemihypertrophy