loading...| Preferred Name |
Freeman-Sheldon syndrome |
| Synonyms |
Arthrogryposis, Distal, Type 2A |
| ID |
http://purl.bioontology.org/ontology/MESH/C535483 |
| altLabel |
Arthrogryposis, Distal, Type 2A Whistling Face-Windmill Vane Hand Syndrome Craniocarpotarsal Dysplasia Distal Arthrogryposis, Type 2A Craniocarpotarsal dystrophy Whistling Face Syndrome |
| cui |
C0265224 |
| HM |
D003394 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
33 |
| MMR |
20150926 |
| notation |
C535483 |
| prefLabel |
Freeman-Sheldon syndrome |
| SC |
3 |
| Scope Statement |
An autosomal dominant craniofacial dystosis that is phenotypically similar to Distal Arthrogryposis Type 1 (OMIM: 108120). In addition to CONTRACTURES of the hands and feet, it is characterized by oropharyngeal abnormalities, SCOLIOSIS, and a distinctive FACIES that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' Mutations in the MYH3 gene have been identified. OMIM: 193700 |
| TERMUI |
T841454 T845886 T736237 T736235 T841453 T800827 T845887 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |