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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 99742
A very rare syndrome characterized by extreme microcephaly and early death, within the first year.
It has been described only in the Old Order Amish of Lancaster County Pennsylvania. In this population, birth prevalence is about 1/500.
Microcephaly is a microcephalia vera (MV), evident at birth or through 22-week fetal ultrasound. Affected children have high urinary levels of alpha- ketoglutaric acid.
All affected infants are homozygous for the same mutation of the SLC25A19 gene on chromosome 17 (17q25.3).
The condition follows an autosomal recessive pattern of inheritance.
Prognosis is very poor: the average life span of affected infants is between five and six months.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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