Timothy syndrome
Timothy syndrome
Definition
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.
Also known as long QT syndrome-syndactyly syndrome, TIMOTHY syndrome, TS — per MONDO
Also identified as
- DOID 0060173 per MONDO
- MESH C536962 per MONDO
- NCIT C142894 per MONDO
- OMIM 601005 per MONDO
- Orphanet 65283 per MONDO
- UMLS C1832916 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Cardiovascular system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Cardiovascular system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Heart | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Heart | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Respiratory system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |