Lethal recessive chondrodysplasia

Get in touch with RARE Concierge.

Contact RARE Concierge

Lethal recessive chondrodysplasia

Synonyms: Maroteaux-Stanescu-Cousin syndrome

Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism short and incurved limbs with normal hands and feet facial dysmorphism (disproportionately large skull frontal prominence slightly flattened nasal bridge and short neck) muscular hypotonia hyperlaxity of the extremities and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

Newly diagnosed with
Lethal recessive chondrodysplasia?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.