Al-Gazali-Donnai-Mueller syndrome

Al-Gazali-Donnai-Mueller syndrome
Synonyms	Blepharophimosis-intellectual disability syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Blepharophimosis, intellectual disability, growth retardation, microcephaly, facial dysmorphism
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Blepharophimosis syndrome, other genetic syndromes
Prevention	N/A
Treatment	Supportive care, symptomatic treatment
Medication	N/A
Prognosis	Variable, depends on severity of symptoms
Frequency	Rare
Deaths	N/A

Other Names: Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.

NIH genetic and rare disease info

• NIH info on Al-Gazali-Donnai-Mueller syndrome

Al-Gazali-Donnai-Mueller syndrome is a rare disease.