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Amish lethal microcephaly

Disease definition

A very rare syndrome characterized by extreme microcephaly and early death, within the first year.

ORPHA:99742

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q02
  • OMIM: 607196
  • UMLS: C1846648
  • MeSH: C538247
  • GARD: 8606
  • MedDRA: -

Summary

Epidemiology

It has been described only in the Old Order Amish of Lancaster County Pennsylvania. In this population, birth prevalence is about 1/500.

Clinical description

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.

Etiology

All affected infants are homozygous for the same mutation of the SLC25A19 gene on chromosome 17 (17q25.3).

Genetic counseling

The condition follows an autosomal recessive pattern of inheritance.

Prognosis

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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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.