Roberts Syndrome

A rare autsomal recessive disorder that is characterized by pre and post-natal growth deficiency, multiple craniofacial, occular, cardiovascular, genitourinary, and bone abnormalities (especially of the limbs), as well as INTELLECTUAL DISABILITY. Mutations in the ESCO2 gene have been identified. OMIM: 268300

Also Known As:

Appelt-Gerken-Lenz Syndrome; Hypomelia Hypotrichosis Facial Hemangioma Syndrome; Long bone deficiencies associated with cleft lip-palate; Pseudothalidomide Syndrome; Roberts-Sc Phocomelia Syndrome; Sc Phocomelia Syndrome; Sc Pseudothalidomide Syndrome; Sc Syndrome; Tetraphocomelia-Cleft Palate Syndrome

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Craniofacial Dysostosis: 243
        Hypertelorism: 176
        Roberts Syndrome: 50
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Craniofacial Dysostosis: 243
      - Hypertelorism: 176
        Roberts Syndrome: 50
    - Roberts Syndrome: 50
  - Congenital Limb Deformities: 8
    - Ectromelia: 258
      - Roberts Syndrome: 50
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Craniofacial Dysostosis: 243
        Hypertelorism: 176
        Roberts Syndrome: 50
      - Roberts Syndrome: 50
    - Congenital Limb Deformities: 8
      - Ectromelia: 258
        Roberts Syndrome: 50

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