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

Simple search

*
(*) mandatory field





 

Other search option(s)

Hirschsprung disease - nail hypoplasia - dysmorphism

Orpha number ORPHA2153
Synonym(s) Al Gazali-Donnai-Muller syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q43.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome has been described in 3 patients only: a male and female sib pair of Sikh origin and a male offspring of first-cousin Pakistani Muslims. All 3 patients died in infancy and had in common a combination of Hirschsprung disease (megacolon with aganglionosis), hypoplastic nails, and minor dysmorphic facial features, including micrognathism, low-set malformed ears and anteverted nostrils. In 1 male infant, bilateral hydronephrosis was detected on routine ultrasound in midtrimester, and imperforate anus was noted at birth. Posterior urethral valves and left inguinal hernia were also present in this infant. It is probably an autosomal recessive condition.

Expert reviewer(s)

  • Dr Elisabeth ROBERT-GNANSIA
Last update: April 2003

(*) 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.