Lethal congenital contracture syndrome type 2
Synonyms: LCCS2 | Multiple contracture syndrome, Israeli-Bedouin type
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees) micrognathia anterior horn cell degeneration skeletal muscle atrophy (mainly in the lower limbs) presence of a markedly distended urinary bladder and absence of hydrops pterygia and bone fractures. Other craniofacial (e.g. cleft palate facial palsy) and ocular (e.g. anisocoria retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however survival into adolescence has been reported.
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 April 2024
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Lethal congenital contracture syndrome type 2?
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