MeSH Browser

MeSH Supplementary: Pena Shokeir syndrome, type 1
Unique ID: C536647
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536647
Entry Term(s): Arthrogryposis multiplex congenita pulmonary hypoplasia; Arthrogryposis multiplex congenita with pulmonary hypoplasia; Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings; Fetal akinesia deformation sequence; Fetal akinesia sequence; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir Syndrome, Type I
Heading Mapped to: *Arthrogryposis
Frequency: 52
Note: A clinically and genetically heterogeneous constellation of congenital abnormalities that include fetal akinesia, intrauterine growth retardation, arthrogryposis, lung hypoplasia, CLEFT PALATE; and CRYPTORCHIDISM. It is associated with mutations in the DOK7, MUSK, and RAPSN genes. OMIM: 208150
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Pena Shokeir syndrome, type 1 MeSH Supplementary Concept Data 2024