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GTR Home > Conditions/Phenotypes > Fetal akinesia deformation sequence 1

Fetal akinesia deformation sequence 1

Synonyms
Fetal akinesia sequence; Lethal Pena-Shokeir 1 syndrome; Pena Shokeir syndrome, type 1; Pena-Shokeir syndrome type I
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). [from HPO]

Available tests

63 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (63 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS9, FADS, FADS1, MUSK
    Summary: muscle associated receptor tyrosine kinase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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