Trisomy 13 Syndrome

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.

Also Known As:

Bartholin-Patau Syndrome; Chromosome 13 Duplication; Chromosome 13 Trisomy Syndrome; Complete Trisomy 13 Syndrome; Mosaic Trisomy 13 Syndrome; Patau Syndrome; Patau's Syndrome; Trisomy 13; Trisomy 13 Syndromes; Bartholin Patau Syndrome; Chromosome 13 Duplications; Duplication, Chromosome 13; Pataus Syndrome

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Trisomy 13 Syndrome: 318
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Trisomy 13 Syndrome: 318
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Trisomy 13 Syndrome: 318
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Trisomy 13 Syndrome: 318
  - Multiple Abnormalities: 211
    - Trisomy 13 Syndrome: 318
  - Chromosome Disorders: 136
    - Trisomy 13 Syndrome: 318
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Trisomy 13 Syndrome: 318

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