Pierre Robin Syndrome

Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.

Also Known As:

Syndrome, Pierre Robin; Glossoptosis, Micrognathia, and Cleft Palate; Pierre Robin Sequence; Pierre Robin's Sequence; Pierre-Robin Syndrome; Robin Sequence; Pierre Robins Sequence; Robin Syndrome, Pierre; Sequence, Pierre Robin; Sequence, Pierre Robin's; Sequence, Robin; Syndrome, Pierre-Robin

Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Pierre Robin Syndrome: 349
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Pierre Robin Syndrome: 349
Stomatognathic Diseases: 705
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Pierre Robin Syndrome: 349
- Stomatognathic System Abnormalities
  - Maxillofacial Abnormalities: 10
    - Jaw Abnormalities: 10
      - Pierre Robin Syndrome: 349
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Maxillofacial Abnormalities: 10
        Jaw Abnormalities: 10
        Pierre Robin Syndrome: 349
  - Stomatognathic System Abnormalities
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Pierre Robin Syndrome: 349

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