Medicine:Al-Gazali-Donnai-Mueller syndrome

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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]

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