Hypochondrogenesis

Description

A condition caused by failure of the skeletal system to correctly develop during the antenatal period, due to mutation of the COL2A1 gene. This condition is characterised by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism, micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition may also present with a cleft palate.

Index terms

Hypochondrogenesis

Exclusions from above levels

http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD24.50 – Achondrogenesis
LD24.5Y – Other specified spondylodysplastic dysplasias
LD24.5Z – Spondylodysplastic dysplasias, unspecified

Foundation entity

Hypochondrogenesis – http://id.who.int/icd/entity/1494246635

Part of: LD24.5: Spondylodysplastic dysplasias › LD24: Syndromes with skeletal anomalies as a major feature › 20: Developmental anomalies