Schmid-Fraccaro syndrome

A disorder resulting from a supernumerary chromosome 22q11 region . It is characterized by COLOBOMA of the IRIS; HYPERTELORISM, downslanting palpebral fissures, ANAL ATRESIA with FISTULA, ear abnormalities, and heart and renal malformations. Intellectual development is normal to near-normal. OMIM: 115470

Also Known As:

Cat Eye syndrome; Chromosome 22 partial tetrasomy; INV DUP(22)(Q11)

Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Chromosome Aberrations: 11361
    - Aneuploidy: 8932
      - Schmid-Fraccaro syndrome: 67
Genetic Phenomena
- Genetic Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        21-22 and Y Human Chromosomes
        Pair 22 Human Chromosomes
        Schmid-Fraccaro syndrome: 67
- Genetic Variation
  - Mutation
    - Chromosome Aberrations: 11361
      - Aneuploidy: 8932
        Schmid-Fraccaro syndrome: 67
- Ploidies
  - Aneuploidy: 8932
    - Schmid-Fraccaro syndrome: 67
Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        21-22 and Y Human Chromosomes
        Pair 22 Human Chromosomes
        Schmid-Fraccaro syndrome: 67
Eye Diseases: 3522
- Eye Abnormalities: 95
  - Schmid-Fraccaro syndrome: 67
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Chromosome Disorders: 136
    - Schmid-Fraccaro syndrome: 67
  - Eye Abnormalities: 95
    - Schmid-Fraccaro syndrome: 67
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Schmid-Fraccaro syndrome: 67

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Disease

Drug/Important Bio-Agent (IBA)