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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: DisorderSummary
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.
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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