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Kapur-Toriello syndrome

Disease definition

Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.

ORPHA:2328

Classification level: Disorder
  • Synonym(s):
    • Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 244300
  • UMLS: C0796005
  • MeSH: C537008
  • GARD: 3078
  • MedDRA: -

Summary

Epidemiology

Only four cases have been reported in the literature, in three unrelated families.

Clinical description

Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies.

Genetic counseling

The condition seems to be inherited as an autosomal recessive trait.

- Last update: February 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.