fetal akinesia deformation sequence syndrome

Term ID

DOID:0111375

Synonyms

arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
fetal akinesia sequence
foetal akinesia deformation sequence syndrome
foetal akinesia sequence
Pena-Shokeir syndrome type 1

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. (3)

References

GARD:9634
MESH:C536647
NCI:C129071
OMIM:PS208150
ORDO:994
SNOMEDCT_US_2023_03_01:401138005
UMLS_CUI:C1276035

Ontology

Human Disease ( DOID:0111375 )

Relationships

is a type of: monogenic disease syndrome

monogenic disease syndrome Show first 5 Terms
has subtype: fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome 2 fetal akinesia deformation sequence syndrome 3 fetal akinesia deformation sequence syndrome 4 fetal akinesia deformation sequence syndrome X-linked

fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome 2 fetal akinesia deformation sequence syndrome 3 fetal akinesia deformation sequence syndrome 4 fetal akinesia deformation sequence syndrome X-linked Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations