lethal type multiple pterygium syndrome

Etiology

• multiple pterygia are found infrequently in
  • children with arthrogryposis
  • fetuses with fetal akinesia syndrome

Pathology

• intrauterine growth retardation
• multiple pterygia (chin to sternum, cervical, axillary, humero-ulnar, crural, popliteal, & ankles)
• flexion contractures causing severe arthrogryposis & fetal akinesia
• subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma & lung hypoplasia
• oligohydramnios & facial anomalies (esp cleft palate) are frequent

Genetics

• associated with defects in CHRNA1, CHRNG, CHRND

More general terms

• developmental disorder
• genetic syndrome (multisystem disorder)

Additional terms

• nonlethal type multiple pterygium syndrome; Escobar syndrome; Escobar variant multiple pterygium syndrome

Database

• OMIM: https://mirror.omim.org/entry/253290