Orphanet: Lethal congenital contracture syndrome type 2

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Lethal congenital contracture syndrome type 2

Disease definition

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.

ORPHA:137776

Classification level: Disorder

Synonym(s):
- LCCS2
- Multiple contracture syndrome, Israeli-Bedouin type
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Neonatal, Antenatal
ICD-10: Q68.8
ICD-11: LD26.4Y
OMIM: 607598
UMLS: C1843478
MeSH: -
GARD: 9177
MedDRA: -

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Lethal congenital contracture syndrome type 2

ORPHA:137776

A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

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