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

Simple search

*
(*) mandatory field





 

Other search option(s)

Microcephaly-microcornea syndrome, Seemanova type

Orpha number ORPHA2528
Synonym(s) Seemanova-Lesny syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.8
OMIM -
UMLS
  • C0796151
  • C2931524
MeSH
  • C537536
  • C537539
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.


Last update: September 2007

(*) 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.