Disease & disorder

laryngo-onycho-cutaneous syndrome

MONDO:0009513

LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.

Clinical trials0
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Synonyms7

Disease research snapshot

No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.

Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.

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Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

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Background context

Laryngo-onycho-cutaneous syndrome

Laryngo-onycho-cutaneous syndrome (also known as Shabbir syndrome) is a rare epithelial disorder inherited in an autosomal recessive fashion. It is characterized by abnormalities in the larynx, nails ("onycho-"), and skin ("cutaneous"). The disorder is only found in Punjabi Muslims and only a few cases have been reported. It was characterized by Pakistani dermatologist Syed Ghulam Shabbir (1923–2002) in 1986. It may be associated with LAMA3.

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

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CureCurrent links normalized diseases, medicines, registry study labels, sponsors and research sites. A link is not the same as a finding of clinical effectiveness. Our research guides explain how to compare studies, decode RxNorm identities, and avoid over-interpreting site and trial counts. See the published database coverage for mapping completeness.

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.