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Lethal faciocardiomelic dysplasia

Disease definition

An extremely rare polymalformative syndrome.

ORPHA:1972

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 227270
  • UMLS: C1856891
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents.

Clinical description

Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life.

- Last update: December 2011

  A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011)

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.