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

Simple search

*
(*) mandatory field





 

Other search option(s)

Osteoglophonic dwarfism

ORPHA2645
Synonym(s) -
Prevalence -
Inheritance Autosomal dominant
Age of onset -
ICD-10
  • Q87.1
OMIM
UMLS
  • C0432283
MeSH
  • C536050
MedDRA -

Summary

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

Less than ten cases have been reported so far.

Main clinical features include craniosynostosis, acrocephaly, a prominent forehead, depressed nasal bridge, hypertelorism, midface hypoplasia, macroglossia, unerupted teeth, short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. The main radiographic features are craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. Intelligence is usually normal.

OGD is caused by mutations in the FGFR1 gene (8p11.2-p11.1).

OGD is transmitted in an autosomal dominant manner.

Expert reviewer(s)

  • Dr Martine LE MERRER

(*) 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.