Al-Gazali-Donnai-Mueller syndrome
(Redirected from Al Gazali Hirschsprung syndrome)
| Al-Gazali-Donnai-Mueller syndrome | |
|---|---|
| Other names | Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features syndrome |
| Specialty | Medical genetics |
| Symptoms | Partial absence of nerves in the intestines, facial dysmorphisms and nail hypoplasia |
| Complications | Death |
| Usual onset | Birth |
| Duration | Life-long (short life span) |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Bad |
| Frequency | very rare |
Al-Gazali-Donnai-Mueller syndrome, also known as Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features syndrome[1] is a rare and deadly genetic disorder which is characterized by Hirschsprung's disease, nail and distal limb hypoplasia, flat facies, upslanting palpebral fissures, narrow philtrum, high palate, micrognathia and low-set ears. No more new cases have been reported in medical literature since 1988.[2][3] It is a type of Hirschsprung's syndrome.[4]
References[edit]
- ^ "Al-Gazali-Donnai-Mueller syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-20.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Al Gazali Donnai Mueller Syndrom". www.orpha.net. Retrieved 2022-05-20.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Al-Gazali-Donnai-Mueller Syndrome". DoveMed. Retrieved 2022-05-20.
- ^ Amiel, Jeanne; Lyonnet, Stanislas (2001-11-01). "Hirschsprung disease, associated syndromes, and genetics: a review". Journal of Medical Genetics. 38 (11): 729–739. doi:10.1136/jmg.38.11.729. ISSN 0022-2593. PMC 1734759. PMID 11694544.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |