fbpx
Wikipedia

Al-Gazali-Donnai-Mueller syndrome

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]

Al-Gazali-Donnai-Mueller syndrome
Other namesHirschsprung's disease, hypoplastic nails, and minor dysmorphic features syndrome
SpecialtyMedical genetics
SymptomsPartial absence of nerves in the intestines, facial dysmorphisms and nail hypoplasia
ComplicationsDeath
Usual onsetBirth
DurationLife-long (short life span)
CausesGenetic mutation
PreventionNone
PrognosisBad
Frequencyvery rare

References edit

  1. ^ "Al-Gazali-Donnai-Mueller syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-20.
  2. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Al Gazali Donnai Mueller Syndrom". www.orpha.net. Retrieved 2022-05-20.
  3. ^ "Al-Gazali-Donnai-Mueller Syndrome". DoveMed. Retrieved 2022-05-20.
  4. ^ 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.


gazali, donnai, mueller, syndrome, this, article, orphan, other, articles, link, please, introduce, links, this, page, from, related, articles, find, link, tool, suggestions, june, 2022, also, known, hirschsprung, disease, hypoplastic, nails, minor, dysmorphic. This article is an orphan as no other articles link to it Please introduce links to this page from related articles try the Find link tool for suggestions June 2022 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 Al Gazali Donnai Mueller syndromeOther namesHirschsprung s disease hypoplastic nails and minor dysmorphic features syndromeSpecialtyMedical geneticsSymptomsPartial absence of nerves in the intestines facial dysmorphisms and nail hypoplasiaComplicationsDeathUsual onsetBirthDurationLife long short life span CausesGenetic mutationPreventionNonePrognosisBadFrequencyvery rareReferences 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 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 nbsp This genetic disorder article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Al Gazali Donnai Mueller syndrome amp oldid 1167541737, wikipedia, wiki, book, books, library,

article

, read, download, free, free download, mp3, video, mp4, 3gp, jpg, jpeg, gif, png, picture, music, song, movie, book, game, games.