Al-Gazali-Donnai-Mueller syndrome

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

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]

Signs and Symptoms

The signs and symptoms of Al-Gazali-Donnai-Mueller syndrome are the following Abnormal facial shape; flat facies, upward slanting palpebral fissures,narrow philtrum, narrow, high-arched palae, micrognathia and low-set ears with abnormal helices. Aganglionic megacolon is also present with anal atresia, hydronephrosis, inguinal hernia, small/hypoplastic nails and distal limb hypoplasia.

Diagnosis

The diagnostic method for Al-Gazali-Donnai-Mueller Syndrome is from the basis of complete physical examination, thorough medical history evaluations, assessments of signs and symptoms, laboratory tests, imaging studies and MRIs and biopsy studies, if necessary. Many clinical conditions may have similar signs and symptoms, so your healthcare provider may carry out various tests in case they misdiagnose.


References

  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.{{cite web}}: CS1 maint: numeric names: authors list (link)
  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.


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