| 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 |
SNOMEDCT_US_2023_03_01:401138005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| 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 |