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Faciocardiorenal syndrome

Disease definition

A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.

ORPHA:1973

Classification level: Disorder
  • Synonym(s):
    • Eastman-Bixler syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 227280
  • UMLS: C0795936
  • MeSH: C536388
  • GARD: 2230
  • MedDRA: -

Summary

Epidemiology

Four cases have been reported in the literature in two unrelated families.

Clinical description

Dysmorphic features include plagiocephaly, malar hypoplasia, broad nasal bridge, poorly developed philtrum and nasal alae, cleft palate and hypodontia. Congenital heart defects were endocardial fibroelastosis in one family and prolapse of the tricuspid valve in the other.

Genetic counseling

The condition is probably hereditary, and transmitted as an autosomal recessive trait.

- Last update: February 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

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.