Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Amish lethal microcephaly

ORPHA99742
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q02
OMIM
UMLS -
MeSH
  • C538247
MedDRA -

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.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Clinical genetics review
  • EN (2011)
Get Acrobat Reader
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.