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Schwartz-Lelek syndrome MeSH Supplementary Concept Data 2024


MeSH Supplementary
Schwartz-Lelek syndrome
Unique ID
C537519
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537519
Entry Term(s)
Craniometadiaphyseal dysplasia
Craniometaphyseal dysplasia
Genetic craniotubular bone dysplasias and hyperostoses
Registry Number
0
Heading Mapped to
*Bone Diseases, Developmental
*Hypertelorism
*Hyperostosis
*Craniofacial Abnormalities
Frequency
29
Note
A hereditary autosomal recessive disorder characterized by hypertelorism, MACROCEPHALY, dental hypoplasia, and increased bone fragility. OMIM: 269300
Date of Entry
2010/08/25
Revision Date
2015/11/10
Schwartz-Lelek syndrome Preferred
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