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Gingival fibromatosis-facial dysmorphism syndrome

Disease definition

A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.

ORPHA:2025

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 228560
  • UMLS: C4304501
  • MeSH: -
  • GARD: 10528
  • MedDRA: -

Summary

Epidemiology

It has been described in two sibs.

Clinical description

Craniofacial dysmorphism consists of relative macrocephaly, bushy eyebrows with synophris, hypertelorism, downslanting palpebral fissures, flattened nasal bridge and high arched palate. The patients have normal intellect.

Genetic counseling

The condition seems to be hereditary, transmitted as an autosomal recessive trait.

- Last update: October 2010

  A summary on this disease is available in Español (2010) Français (2010) Nederlands (2010)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.