The lethal congenital contracture syndromes (LCCSs) constitue a well-defined autosomal recessive disorder associating early fetal hydrops and akinesia, a Pena-Shokeir phenotype (fetal akinesia syndrome or FAS) (MIM.208150), specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy.
Etiology
loss of function ERBB3 germline mutations
See also
References
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am J Hum Genet. 2007 Sep;81(3):589-95. PMID: 17701904