Arthrogyposis Multiplex with Deafness, Inguinal Hernias, and Early Death

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

610001

Mode of Inheritance

Autosomal recessive

Description

This is an extremely rare disorder, so far only described in a single Palestinian family. The condiiton is characterized by fetal akinesia deformation sequence, inguinal hernias, hearing loss, and myopathic changes, accomapnied by neonatal death. 

Epidemiology in the Arab World

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Other Reports

Palestine
Tiemann et al. (2005) described a highly consanguineous Palestinian family with three siblings affected with this extremely rare disorder. All patients presented with a phenotype of  progressive respiratory failure with a peculiar hiccup-like breathing pattern, inability to swallow, severe hearing failure, sensory neuropathy, multiple contractures, inguinal hernias, and early death. There was histological evidence of severe skeletal myopathy with subsarcolemmal glycogen storage without signs of impaired myocardial function, hypoglycemia, or metabolic acidosis.
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