| > Get Information > Disabilities and Diagnosis
|
| View Disabilities and Diagnosis
|
|
|
|
|
|
Goltz syndrome
Focal dermal hypopla, FDH
This is a rare genetic disorder occurring predominantly in females. The main feature is distinctive skin abnormalities with a wide variety of others including the eyes, teeth, central nervous system, skeletal, urinary, gastrointestinal and cardiovascular systems. Intellectual disability may be present.
Useful Links
Disease-specific reviews describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients and families with hereditary disorders, and providing links to related resources and databases
A university website giving a brief description of the disorder and a series of case studies with further references:
A general interest site providing a survey of medical eponyms and the persons behind them, of interest here in understanding some medical links:
Popular medical site giving description, definition, genetic profile, demographics, signs and symptoms, treatment and management as well as links to journal articles, organisations and websites:
Cancel
|
|
 TOP |