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

Simple search

*
(*) mandatory field





 

Other search option(s)

Achalasia - microcephaly

ORPHA929
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
ICD-10
  • Q39.5
OMIM
UMLS
  • C1860212
MeSH
  • C536010
MedDRA -

Summary

Achalasia microcephaly syndrome is marked by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). It is a very rare condition first described in three sisters and one brother. The parents denied consanguinity but came from the same small village in Mexico. A second case was reported in a child born to a consanguineous couple coming from the same area in northwest Mexico. Analysis of these cases supports the hypothesis that the syndrome is a distinct autosomal recessive condition. However, one case has been described in Germany: one patient with achalasia microcephaly syndrome was born to a mother exposed to the anti-malarial drug Mefloquine during the first 8 weeks of pregnancy.


(*) 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
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.