MeSH Browser

MeSH Supplementary: Roberts Syndrome
Unique ID: C535687
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535687
Entry Term(s): 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
Heading Mapped to: *Ectromelia; *Hypertelorism; *Craniofacial Abnormalities
Frequency: 42
Note: 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
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Roberts Syndrome MeSH Supplementary Concept Data 2024