Microstomia
Microstomia | |
ICD-10 | Q18.5 |
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ICD-9 | 744.84 |
DiseasesDB | 29609 |
eMedicine | ent/148 |
MeSH | D008865 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Microstomia (micro- a combining form meaning small + -stomia a combining form meaning mouth = (abnormally) "small mouth") is a clinical feature of many craniofacial syndromes, including Freeman-Sheldon syndrome and Sheldon-Hall syndromes (or distal arthrogryposis multiplex congenita). It may present with whistling-face feature, as well, as in Freeman-Sheldon syndrome. In this syndrome, it impairs alimentation and may require oral commissurotomies, with subsequent revisions, to improve function.
Differential diagnosis of causes
Congenital conditions
- Fine-Lubinsky syndrome
- Fryns-van den Berghe syndrome
- Hallermann-Streiff syndrome (HSS)
Chromosomal abnormalities
Autosomal dominant conditions
- Amyotrophy, hereditary neuralgic
- Freeman-Sheldon syndrome
- Micrognathia with peromelia
- Velocardiofacial syndrome
Autosomal recessive conditions
- Burton syndrome
- Epidermolysis bullosa dystrophica, Hallopeau-Siemens type
- Fibrochondrogenesis
- Hennekam syndrome
- Schwartz-Jampel-Aberfeld syndrome
Template:Congenital malformations and deformations of eye, ear, face and neck