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

Simple search

(*) mandatory field


Other search option(s)

1q44 microdeletion syndrome

Synonym(s) Del(1)(q44)
Monosomy 1q44
Prevalence <1 / 1 000 000
Inheritance Not applicable
or Unknown
Age of onset Infancy
  • Q93.5
MeSH -
MedDRA -


1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

It has been reported in four unrelated patients.

The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients.

This microdeletion was identified by array CGH (comparative genomic hybridization).

Expert reviewer(s)


(*) 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.