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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2328
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.
Only four cases have been reported in the literature, in three unrelated families.
Dysmorphic features include bilateral cleft lip and palate, bulbous nasal tip and eye anomalies.
The condition seems to be inherited as an autosomal recessive trait.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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