Timothy syndrome

rare

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

Identifiers: MONDO:0010979 OMIM:601005 Orphanet:65283
Part of: CACNA1C-related disorder Autosomal dominant disease Familial long QT syndrome
Also known as: long QT syndrome-syndactyly syndrome · LQT8 · TS

Subtypes

All diseases Rare only

Disease Rare Not rare Subtypes

Timothy syndrome, classic type MONDO:0021171 2
Timothy syndrome, atypical type MONDO:0021172

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