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Metadata
ID DOID:0111375
Name fetal akinesia deformation sequence syndrome
Definition A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
https://www.ncbi.nlm.nih.gov/pubmed/19261599, https://www.ncbi.nlm.nih.gov/pubmed/22482962, https://www.ncbi.nlm.nih.gov/pubmed/30498368
Xrefs

GARD:9634

MESH:C536647

NCI:C129071

OMIM:PS208150

ORDO:994

SNOMEDCT_US_2020_09_01:401138005

UMLS_CUI:C1276035

Synonyms

arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome [EXACT]

FADS [EXACT]

fetal akinesia sequence [EXACT]

foetal akinesia deformation sequence syndrome [EXACT]

foetal akinesia sequence [EXACT]

Pena-Shokeir syndrome type 1 [EXACT]

Parent Relationships

is_a syndrome

is_a monogenic disease

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