Conditions / Syndrome
Roberts syndrome
info · Syndrome
A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1
A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1.
Signs and symptoms
- Phocomelia
- Underdeveloped nasal alae
- Absent radius
- Microcephaly
- Hyperplasia of the maxilla
- Hypertelorism
- Cavernous hemangioma of the face
- Proptosis
- Absent thumb
- Opacification of the corneal stroma
Also known as: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE; RBS; Roberts-Sc Phocomelia Syndrome; SC phocomelia syndrome