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

Genetics: - autosomal recessive - associated with defects in ERBB3 Pathology: - neurogenic form of a neonatally lethal arthrogryposis - atrophy of the anterior horn of the spinal cord - phenotype suggests a spinal cord neuropathic etiology Clinical manifestations: - multiple joint contractures - markedly distended urinary bladder

General

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

Database Correlations

OMIM 607598

References

  1. UniProt :accession P21860
  2. OMIM :accession 607598