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

Simple search

(*) mandatory field


Other search option(s)

Trisomy 8q

Synonym(s) Duplication 8q
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Neonatal
  • Q92.2
  • C0795829
  • C538020
MedDRA -


Disease definition

Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.

(*) 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

Article for general public
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.