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Osteoglophonic dwarfism

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Neonatal
  • Q87.1
  • C0432283
  • C536050
MedDRA -


Disease definition

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


Less than ten cases have been reported so far.

Clinical description

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).

Genetic counseling

OGD is transmitted in an autosomal dominant manner.

Expert reviewer(s)

  • Dr Martine LE MERRER

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