Orphanet: Hypertelorism microtia facial clefting syndrome
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Hypertelorism-microtia-facial clefting syndrome

Disease definition

Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.

ORPHA:2213

Classification level: Disorder
  • Synonym(s):
    • Bixler-Christian-Gorlin syndrome
    • HMC syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.0
  • OMIM: 239800
  • UMLS: C0220742
  • MeSH: -
  • GARD: 897
  • MedDRA: -

Summary

Epidemiology

Nine cases have been reported in the literature in seven families.

Clinical description

Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common.

Antenatal diagnosis

Antenatal diagnosis is possible by ultrasonographic monitoring.

Genetic counseling

The reported cases support autosomal recessive inheritance.

- Last update: March 2010

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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