Alves syndrome
| Classification according to ICD-10 | |
|---|---|
| Q79.9 | Skeletal system disease, unspecified |
| Disease not listed in the ICD as only 10 cases are known | |
| ICD-10 online (WHO version 2019) | |
The Alves syndrome (en. Alves' syndrome , trichooculodermovertebral syndrome ) was described in 1981 by the Brazilian pathologist A. Alves . It is an extremely rare hereditary malformation of the skin and appendages as well as the skeleton . Fewer than ten cases have been described worldwide. There is probably a autosomal - recessive inheritance before.
The symptoms vary in combination: abnormal tooth shapes , clouding of the lens of the eye , deformed fingernails and toenails, dry skin, missing eyebrows, bald head , malformed fingers, joint abnormalities , extremely short nose , short stature , spina bifida .
Individual evidence
- ↑ RF Stratton, RJ Jorgenson, IC Krause: Possible second case of tricho-oculo-dermo-vertebral (Alves) syndrome. In: Am. J. Med. Genet. Volume 46, 1993, pp. 313-315.
