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: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - Trisomy 13 Syndrome: 318
Cardiovascular Diseases: 94258
- Heart Diseases: 26486
  - Congenital Heart Defects: 9139
    - Trisomy 13 Syndrome: 318
- Cardiovascular Abnormalities: 457
  - Congenital Heart Defects: 9139
    - Trisomy 13 Syndrome: 318
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Cardiovascular Abnormalities: 457
    - Congenital Heart Defects: 9139
      - Trisomy 13 Syndrome: 318
  - Multiple Abnormalities: 213
    - Trisomy 13 Syndrome: 318
  - Chromosome Disorders: 140
    - Trisomy 13 Syndrome: 318
- Inborn Genetic Diseases: 12342
  - Chromosome Disorders: 140
    - Trisomy 13 Syndrome: 318

Carli C Andrews Selected Research

Carli C Andrews Research Topics

Disease

Drug/Important Bio-Agent (IBA)