Details for phenotype: acromesomelic chondrodysplasia with genital anomalies

EndoNet ID: ENP00524

Name

acromesomelic chondrodysplasia with genital anomalies

This phenotype is pathologic

Osteochondrodysplasias are a clinically and genetically heterogeneous group of disorders. Acromesomelic chondrodysplasias are a rare subgroup of these hereditary skeletal disorders characterised by short stature, very short limbs, and hand/foot malformations. [1]

GO	regulation of chondrocyte differentiation cartilage condensation
OMIM	609441
MeSH term	D010009

no activity (knock out experiment or RNAi) of BMP receptor type IB
in chondrocyte
- Acromesomelic chondrodysplasias are a rare subgroup of hereditary skeletal disorders characterised by short stature, very short limbs, and hand/foot malformations due to a homozygous mutation in BMPR1B. This mutation is expected to result in a loss of function and is thus different from the heterozygous missense mutations in BMPR1B recently shown to cause brachydactyly type A2 through a dominant negative effect. [1]

Reference