Genee-Wiedemann syndrome

A rare autosomal recessive disorder characterized clinically by severe micrognathia, CLEFT LIP or CLEFT PALATE, hypoplasia or aplasia of the postaxial elements of the limbs, COLOBOMA of the eyelids, and supernumerary nipples. Mutations in the DHODH gene have been identified. OMIM: 263750

Also Known As:

Genee-Wiedemann acrofacial dysostosis; Miller syndrome; POADS syndrome; Postaxial Acrofacial Dysostosis; Postaxial Acrofacial Dysostosis (POADS); Postaxial acrofacial dysostosis (POADS) syndrome; Wildervanck-Smith syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Genee-Wiedemann syndrome: 20
  - Musculoskeletal Abnormalities: 46
    - Craniofacial Abnormalities: 208
      - Craniofacial Dysostosis: 246
        Mandibulofacial Dysostosis: 168
        Genee-Wiedemann syndrome: 20
      - Maxillofacial Abnormalities: 10
        Jaw Abnormalities: 10
        Micrognathism: 348
        Genee-Wiedemann syndrome: 20
    - Congenital Limb Deformities: 8
      - Genee-Wiedemann syndrome: 20
  - Stomatognathic System Abnormalities
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Micrognathism: 348
        Genee-Wiedemann syndrome: 20
Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Developmental Bone Diseases: 156
    - Dysostoses: 94
      - Craniofacial Dysostosis: 246
        Mandibulofacial Dysostosis: 168
        Genee-Wiedemann syndrome: 20
- Musculoskeletal Abnormalities: 46
  - Craniofacial Abnormalities: 208
    - Craniofacial Dysostosis: 246
      - Mandibulofacial Dysostosis: 168
        Genee-Wiedemann syndrome: 20
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Micrognathism: 348
        Genee-Wiedemann syndrome: 20
  - Congenital Limb Deformities: 8
    - Genee-Wiedemann syndrome: 20
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Micrognathism: 348
      - Genee-Wiedemann syndrome: 20
Eye Diseases: 3620
- Hereditary Eye Diseases: 19
  - Coloboma: 487
    - Mandibulofacial Dysostosis: 168
      - Genee-Wiedemann syndrome: 20
Stomatognathic Diseases: 725
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Micrognathism: 348
      - Genee-Wiedemann syndrome: 20
- Stomatognathic System Abnormalities
  - Maxillofacial Abnormalities: 10
    - Jaw Abnormalities: 10
      - Micrognathism: 348
        Genee-Wiedemann syndrome: 20

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Disease

Drug/Important Bio-Agent (IBA)