Zamzam–Sheriff–Phillips syndrome

Zamzam–Sheriff–Phillips syndrome
Synonyms	ZSPS
Pronounce	N/A
Specialty	Medical genetics
Symptoms	Intellectual disability, short stature, microcephaly, facial dysmorphism, skeletal abnormalities
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Other genetic syndromes
Prevention	N/A
Treatment	Supportive care, symptomatic treatment
Medication	N/A
Prognosis	Variable
Frequency	Extremely rare
Deaths	N/A

Zamzam-Sheriff-Phillips syndrome is a rare autosomal recessive congenital disorder. It is characterized by aniridia, ectopia lentis, abnormal upper incisors and intellectual disability. Not a lot of research has been undertaken of this particular disease so thus far there is no known gene that affects this condition. However it has been hypothesised that the symptoms described are found at a particular gene, though intellectual disability is believed to be due to a different genetic cause. Consanguinuity (intermarrying among relatives such as cousins), often associated with autosomal recessive inheritance, has been attributed to the inheritance of this disease.

References

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