Nager type Acrofacial dysostosis

A autosomal dominant mandibulofacial dystosis characterized by downslanted palpebral fissures, midface retrusion, and MICROGNATHIA requiring TRACHEOSTOMY in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. PHOCOMELIA of the upper limbs and, occasionally, lower-limb defects has also been reported. Mutations in the SF3B4 gene have been identified. OMIM: 154400

Also Known As:

Acrofacial dysostosis, Nager type; AFD, Nager type; Acrofacial Dysostosis 1, Nager Type; Afd1; Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies; Nager Acrofacial Dysostosis; Nager Acrofacial Dysostosis Syndrome; Nager syndrome; Preaxial Mandibulofacial Dysostosis; Preaxial acrofacial dysostosis

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Craniofacial Dysostosis: 243
        Mandibulofacial Dysostosis: 164
        Nager type Acrofacial dysostosis: 31
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Craniofacial Dysostosis: 243
      - Mandibulofacial Dysostosis: 164
        Nager type Acrofacial dysostosis: 31
Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Coloboma: 478
    - Mandibulofacial Dysostosis: 164
      - Nager type Acrofacial dysostosis: 31
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Craniofacial Dysostosis: 243
        Mandibulofacial Dysostosis: 164
        Nager type Acrofacial dysostosis: 31

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