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

Etiology

see pathology

Pathology

• nonlethal form of arthrogryposis multiplex congenita
• congenital contractures may be caused by reduced fetal movements at sensitive times of development
• possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis

Genetics

• autosomal recessive
• associated with defects in CHRNG

Clinical manifestations

• excessive webbing (pterygia)
• congenital contractures (arthrogryposis) are common
• scoliosis
• variable other features include
  • intrauterine death
  • congenital respiratory distress
  • short stature
  • faciocranial dysmorphism
  • ptosis
  • low-set ears
  • arachnodactyly & cryptorchism in males

More general terms

• developmental disorder
• genetic syndrome (multisystem disorder)

Additional terms

• lethal type multiple pterygium syndrome

Database

• OMIM: https://mirror.omim.org/entry/265000