Shprintzen Golberg craniosynostosis

An autosomal dominant disorder characterized by craniosynostosis, a marfanoid habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies. There appears to be a characteristic FACIES involving HYPERTELORISM, downslanting palpebral fissures, high-arched palate, MICROGNATHIA, and low-set posteriorly rotated ears. Other commonly reported manifestations include MUSCLE HYPOTONIA, developmental delay, and inguinal or umbilical HERNIA; the most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility. Mutations in the SKI gene have been identified. OMIM: 182212

Also Known As:

Craniosynostosis and Marfanoid disorder, type 1; Craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid Disorder With Craniosynostosis, Type I; Marfanoid craniosynostosis syndrome; Marfanoid-Craniosynostosis Syndrome; Shprintzen Golberg craniosynostosis syndrome; Shprintzen-Goldberg Craniosynostosis Syndrome; Shprintzen-Goldberg Syndrome

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Marfan Syndrome: 1773
      - Shprintzen Golberg craniosynostosis: 17
    - Dysostoses: 91
      - Synostosis: 796
        Craniosynostoses: 2516
        Shprintzen Golberg craniosynostosis: 17
- Musculoskeletal Abnormalities: 43
  - Synostosis: 796
    - Craniosynostoses: 2516
      - Shprintzen Golberg craniosynostosis: 17
  - Craniofacial Abnormalities: 203
    - Craniosynostoses: 2516
      - Shprintzen Golberg craniosynostosis: 17
  - Congenital Limb Deformities: 8
    - Arachnodactyly: 25
      - Shprintzen Golberg craniosynostosis: 17
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Marfan Syndrome: 1773
        Shprintzen Golberg craniosynostosis: 17
  - Multiple Abnormalities: 211
    - Marfan Syndrome: 1773
      - Shprintzen Golberg craniosynostosis: 17
  - Musculoskeletal Abnormalities: 43
    - Synostosis: 796
      - Craniosynostoses: 2516
        Shprintzen Golberg craniosynostosis: 17
    - Craniofacial Abnormalities: 203
      - Craniosynostoses: 2516
        Shprintzen Golberg craniosynostosis: 17
    - Congenital Limb Deformities: 8
      - Arachnodactyly: 25
        Shprintzen Golberg craniosynostosis: 17
- Inborn Genetic Diseases: 11939
  - Marfan Syndrome: 1773
    - Shprintzen Golberg craniosynostosis: 17
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Marfan Syndrome: 1773
      - Shprintzen Golberg craniosynostosis: 17
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Marfan Syndrome: 1773
      - Shprintzen Golberg craniosynostosis: 17
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Marfan Syndrome: 1773
    - Shprintzen Golberg craniosynostosis: 17

Bhawini Shah Selected Research

Bhawini Shah Research Topics

Disease

Drug/Important Bio-Agent (IBA)