Freeman-Sheldon Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Freeman-Sheldon syndrome is an extremely rare, usually autosomal - dominant inherited syndrome that also can occur at any time as a spontaneous mutation first time in a family. It is caused by mutations in the embryonic myosin heavy chain ( MYH3 ) gene . These mutations lead to damage to the muscles of the embryo, since the myosin heads that produce the muscle contractions cannot work properly.
Synonyms are: FSS; Arthrogryposis, distal, type 2A; Craniocarpotarsal dysplasia; Craniocarpotarsal dystrophy, English whistling-face syndrome
The frequency is given as 1: 1,000,000.
The malfunction of the muscles alone causes the malpositions and restricted mobility of the affected joints, drooping eyelids ( ptosis ), the characteristic small, "whistling" mouth ( microstomy ) and the "dented face". The severity of the various symptoms and the number of affected joints is very variable, so that a person with FSS can be severely or slightly disabled or not disabled at all.
Since the gene mutation only affects the muscles, in contrast to many phenotypically similar syndromes, cognitive development and intelligence are not impaired by the syndrome.
A variant of the clinical picture, the Sheldon Hall syndrome, must be distinguished .
swell
literature
- Reha M Toydemir et al .: Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. In: Nature Genetics 38, 561-565 (01 May 2006)
- EA Freeman, JH Sheldon: Cranio-carpo-tarsal dystrophy: undescribed congenital malformation. In: Arch Dis Child . 1938; 13, pp. 277-283. (Initial description)
Individual evidence
- ^ Freeman-Sheldon syndrome. In: Orphanet (Rare Disease Database).
Web links
Freeman-Sheldon Syndrome. In: Online Mendelian Inheritance in Man . (English)
