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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
a) intrauterine death
b) congenital respiratory distress
c) short stature
d) faciocranial dysmorphism
e) ptosis
f) low-set ears
g) arachnodactyly & cryptorchism in males
Related
lethal type multiple pterygium syndrome
General
developmental disorder
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 265000
References
UniProt :accession P07510