lethal congenital contracture syndrome type 2; Israeli Bedouin multiple contracture syndrome type A (LCCS2)

Pathology

• neurogenic form of a neonatally lethal arthrogryposis
• atrophy of the anterior horn of the spinal cord
• phenotype suggests a spinal cord neuropathic etiology

Genetics

• autosomal recessive
• associated with defects in ERBB3

Clinical manifestations

• multiple joint contractures
• markedly distended urinary bladder

More general terms

• congenital anomaly (birth defect)
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/607598