Porencephaly

Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types.

Also Known As:

Autosomal Dominant Porencephaly Type 1; Brain Small Vessel Disease With Axenfeld-Rieger Anomaly; Brain Small Vessel Disease with Hemorrhage; Brain Small-Vessel Disease with Hemorrhage; Col4a1-Related Brain Small-Vessel Disease; Congenital Porencephaly; Developmental Porencephaly; Encephaloclastic Porencephaly; Familial Porencephalic White Matter Disease; Familial Porencephaly; Infantile Hemiplegia with Porencephaly; Porencephaly Type 1; Porencephaly, Familial; Porencephaly, Type 1; Porencephaly, Type 1, Autosomal Dominant; Post-traumatic Porencephaly; Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant; Brain Small Vessel Disease With Axenfeld Rieger Anomaly; Col4a1 Related Brain Small Vessel Disease; Leukoencephalopathy with Axenfeld Rieger Anomaly; Porencephalies; Porencephalies, Post-traumatic; Porencephalies, Posttraumatic; Porencephaly, Congenital; Porencephaly, Developmental; Porencephaly, Encephaloclastic; Porencephaly, Post-traumatic; Porencephaly, Posttraumatic; Post traumatic Porencephaly; Post-traumatic Porencephalies; Posttraumatic Porencephalies; Type 1 Porencephaly; Leukoencephalopathy with Axenfeld-Rieger Anomaly; Posttraumatic Porencephaly

Musculoskeletal Diseases: 751
- Musculoskeletal Abnormalities: 46
  - Craniofacial Abnormalities: 208
    - Microcephaly: 1507
      - Porencephaly: 66
Nervous System Diseases: 14737
- Nervous System Malformations: 36
  - Malformations of Cortical Development: 383
    - Group III Malformations of Cortical Development
      - Porencephaly: 66
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Musculoskeletal Abnormalities: 46
    - Craniofacial Abnormalities: 208
      - Microcephaly: 1507
        Porencephaly: 66
  - Nervous System Malformations: 36
    - Malformations of Cortical Development: 383
      - Group III Malformations of Cortical Development
        Porencephaly: 66

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A Rosano Research Topics

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