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Amish lethal microcephaly

Orpha number ORPHA99742
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q02
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Amish lethal microcephaly is 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.


Last update: December 2010

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Detailed information
Clinical genetics review
  • EN (2011)
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