Medicine:Al-Gazali-Donnai-Mueller syndrome
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| 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
- ↑ "Al-Gazali-Donnai-Mueller syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/584/al-gazali-donnai-mueller-syndrome.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Al Gazali Donnai Mueller Syndrom" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2052&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2153&Krankheite(n)/Krankheitsgruppe=Al-Gazali-Donnai-Mueller-Syndrom&title=Al-Gazali-Donnai-Mueller-Syndrom&search=Disease_Search_Simple.
- ↑ "Al-Gazali-Donnai-Mueller Syndrome" (in en). http://www.dovemed.com/diseases-conditions/al-gazali-donnai-mueller-syndrome/.
- ↑ Amiel, Jeanne; Lyonnet, Stanislas (2001-11-01). "Hirschsprung disease, associated syndromes, and genetics: a review" (in en). Journal of Medical Genetics 38 (11): 729–739. doi:10.1136/jmg.38.11.729. ISSN 0022-2593. PMID 11694544. PMC 1734759. https://jmg.bmj.com/content/38/11/729.
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