lethal congenital contracture syndrome type 3; Israeli Bedouin multiple contracture syndrome type B (LCCS3)

Genetics

• autosomal recessive
• associated with defects in P5K1C

Clinical manifestations

• patients present at birth with
  • severe multiple joint contractures
  • severe muscle atrophy, mainly in the legs
• absence of hydrops, fractures, & multiple pterygia

More general terms

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

Database

• OMIM: https://mirror.omim.org/entry/611369