Greig cephalopolysyndactyly syndrome

A congenital syndrome characterized by variable abnormalities of the limbs, head and face including an unusually prominent forehead (frontal bossing), HYPERTELORISM; MACROCEPHALY; CRANIOSYNOSTOSES; and SYNDACTYLY. Psychomotor development is usually normal. It is caused by mutations or chromosomal translocations invloving the GLI3 gene. OMIM: 175700

Also Known As:

Cephalopolysyndactyly Syndrome; Greig Cephalopolysyndactyly (Gcps) Syndrome; Greig syndrome; Polysyndactyly with peculiar skull shape

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Synostosis: 796
        Craniosynostoses: 2516
        Acrocephalosyndactylia: 352
        Greig cephalopolysyndactyly syndrome: 13
        Syndactyly: 353
        Acrocephalosyndactylia: 352
        Greig cephalopolysyndactyly syndrome: 13
- Musculoskeletal Abnormalities: 43
  - Synostosis: 796
    - Craniosynostoses: 2516
      - Acrocephalosyndactylia: 352
        Greig cephalopolysyndactyly syndrome: 13
    - Syndactyly: 353
      - Acrocephalosyndactylia: 352
        Greig cephalopolysyndactyly syndrome: 13
  - Craniofacial Abnormalities: 203
    - Craniosynostoses: 2516
      - Acrocephalosyndactylia: 352
        Greig cephalopolysyndactyly syndrome: 13
  - Congenital Limb Deformities: 8
    - Syndactyly: 353
      - Acrocephalosyndactylia: 352
        Greig cephalopolysyndactyly syndrome: 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Synostosis: 796
      - Craniosynostoses: 2516
        Acrocephalosyndactylia: 352
        Greig cephalopolysyndactyly syndrome: 13
      - Syndactyly: 353
        Acrocephalosyndactylia: 352
        Greig cephalopolysyndactyly syndrome: 13
    - Craniofacial Abnormalities: 203
      - Craniosynostoses: 2516
        Acrocephalosyndactylia: 352
        Greig cephalopolysyndactyly syndrome: 13
    - Congenital Limb Deformities: 8
      - Syndactyly: 353
        Acrocephalosyndactylia: 352
        Greig cephalopolysyndactyly syndrome: 13

Constance Scharff Selected Research

Constance Scharff Research Topics

Disease

Drug/Important Bio-Agent (IBA)