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Roberts Syndrome MeSH Supplementary Concept Data 2022


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
Registry Number
0
Heading Mapped to
*Ectromelia
*Hypertelorism
*Craniofacial Abnormalities
Frequency
38
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 Preferred
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