ICD-11 MMS

20 Developmental anomalies

Multiple developmental anomalies or syndromes  (LD20-LD2Z)

LD24 Syndromes with skeletal anomalies as a major feature

LD24.5 Spondylodysplastic dysplasias

LD24.51 Hypochondrogenesis

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01


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.

synonyms

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