Kapur–Toriello syndrome
Rare genetic disorder with abnormal nasal columella.
Kapur–Toriello syndrome is a rare genetic condition inherited in an autosomal recessive pattern. Its hallmark is a distinctive shape of the columella—the lower end of the nasal septum—which protrudes below the nostrils. People with this syndrome typically experience severe delays in neurodevelopment, small eyes or colobomas, low-set and misshapen ears, a bilateral cleft lip and palate, and chronic constipation. Among the five documented cases, two had an imperforate anus or rectal narrowing; both of those individuals were female, which may hint at sex-based differences in symptoms. No specific genes have yet been linked to the disorder. The condition was first identified in 1991 by Kapur and Toriello, who described a brother and sister with severe intellectual disability, cleft lip and palate, heart and intestinal abnormalities, and the characteristic long columella. Only three additional cases have been reported since that initial description.
- Field
- Medical genetics
- Known for
- Rare autosomal recessive disorder with abnormal columella
- First described
- 1991
- Number of described cases
- 5
Lore & Background
Kapur–Toriello syndrome was first described in 1991 by Kapur and Toriello, who reported a sibling pair—a brother and sister—with a previously undescribed autosomal recessive disorder. Both siblings exhibited severe mental retardation, cleft lip and palate, heart and intestinal anomalies, and an abnormal nose with a long columella. Since that initial description, only three additional cases have been documented, bringing the total to five described cases.
Reader's Guide
Kapur–Toriello syndrome is significant as a rare genetic disorder that highlights the challenges of diagnosing and characterizing conditions with very few reported cases. The syndrome's defining feature—an abnormally long columella extending below the nostrils—serves as a key diagnostic marker. Clinical manifestations include severe neurodevelopmental delay, microphthalmia and/or coloboma, low-set and malformed ears, bilateral cleft lip and palate, and constipation. Among the five cases, two presented with imperforated anus or rectal stenosis, both in females, suggesting possible sex-differentiated clinical manifestations, though this is not definitive. No genes have yet been linked to the syndrome, underscoring the need for further research. Its legacy lies in its contribution to the catalog of rare genetic disorders and the ongoing effort to understand its genetic basis.
Did You Know?
- Kapur–Toriello syndrome is a rare autosomal recessive genetic disorder.
- The defining feature is an abnormal columella that extends below the margin of the nostrils.
- Only five cases have been described since the syndrome was first reported in 1991.
- Two of the five cases, both females, had imperforated anus or rectal stenosis.
More in Genetic disorders with OMIM but no gene 1-24
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