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Timothy syndrome type 1

MedGen UID:
1802409
•Concept ID:
C5574939
•
Disease or Syndrome
Synonyms: Long QT syndrome with syndactyly; LQT8 type 1; Timothy syndrome classic type; TS1
SNOMED CT: Long QT syndrome with syndactyly (699256006); Timothy syndrome classic type (699256006); Timothy syndrome type 1 (699256006)
 
Monarch Initiative: MONDO:0035678
Orphanet: ORPHA595098

Definition

Timothy syndrome is a multi-system disorder with characteristics of 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. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Timothy syndrome type 1

Recent clinical studies

Diagnosis

A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder.
Levy RJ, Timothy KW, Underwood JFG, Hall J, Bernstein JA, Pașca SP
Pediatr Neurol 2023 Jan;138:101-106. Epub 2022 Nov 2 doi: 10.1016/j.pediatrneurol.2022.10.013. PMID: 36436328
Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2?
Diep V, Seaver LH
Am J Med Genet A 2015 Nov;167A(11):2780-5. Epub 2015 Jul 31 doi: 10.1002/ajmg.a.37258. PMID: 26227324
Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1.
Corona-Rivera JR, Barrios-Prieto E, Nieto-García R, Bloise R, Priori S, Napolitano C, Bobadilla-Morales L, Corona-Rivera A, Zapata-Aldana E, Peña-Padilla C, Rivera-Vargas J, Chavana-Naranjo E
Eur J Med Genet 2015 Jun-Jul;58(6-7):332-5. Epub 2015 Apr 13 doi: 10.1016/j.ejmg.2015.04.001. PMID: 25882468
Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.
Hiippala A, Tallila J, Myllykangas S, Koskenvuo JW, Alastalo TP
Am J Med Genet A 2015 Mar;167A(3):629-34. doi: 10.1002/ajmg.a.36924. PMID: 25691416

Therapy

Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1.
Corona-Rivera JR, Barrios-Prieto E, Nieto-García R, Bloise R, Priori S, Napolitano C, Bobadilla-Morales L, Corona-Rivera A, Zapata-Aldana E, Peña-Padilla C, Rivera-Vargas J, Chavana-Naranjo E
Eur J Med Genet 2015 Jun-Jul;58(6-7):332-5. Epub 2015 Apr 13 doi: 10.1016/j.ejmg.2015.04.001. PMID: 25882468

Prognosis

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
Etheridge SP, Bowles NE, Arrington CB, Pilcher T, Rope A, Wilde AA, Alders M, Saarel EV, Tavernier R, Timothy KW, Tristani-Firouzi M
Am J Med Genet A 2011 Oct;155A(10):2578-83. Epub 2011 Sep 9 doi: 10.1002/ajmg.a.34223. PMID: 21910241

Clinical prediction guides

Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1.
Corona-Rivera JR, Barrios-Prieto E, Nieto-García R, Bloise R, Priori S, Napolitano C, Bobadilla-Morales L, Corona-Rivera A, Zapata-Aldana E, Peña-Padilla C, Rivera-Vargas J, Chavana-Naranjo E
Eur J Med Genet 2015 Jun-Jul;58(6-7):332-5. Epub 2015 Apr 13 doi: 10.1016/j.ejmg.2015.04.001. PMID: 25882468

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