Arthrogryposis

Gene: NEB

Green List (high evidence)

Arthrogryposis multiplex congenita-6 (AMC6) is a severe disorder with onset of symptoms in utero, marked by polyhydramnios and reduced fetal movements. Affected individuals have congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and oedema with fetal hydrops. Fetal demise or termination of pregnancy often occurs after ultrasound detection of abnormalities. Those that survive to birth have significant hypotonia with absent spontaneous movements, respiratory insufficiency, arthrogryposis, and multiple pterygia. Skeletal muscle is hypoplastic, immature, and underdeveloped, with nemaline rods, poorly developed sarcomeres, and poor cross-striation.

Nemaline myopathy is an allelic, less severe disorder.

More than 5 unrelated families reported.

Created: 1 Jun 2021, 1:05 a.m. | Last Modified: 1 Jun 2021, 1:05 a.m.

Panel Version: 0.268

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis multiplex congenita 6, MIM# 619334

Publications

• 10051637
• 22367672
• 26578207
• 33376055