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Kenny-Caffey syndrome, type 2 MeSH Supplementary Concept Data 2022


MeSH Supplementary
Kenny-Caffey syndrome, type 2
Unique ID
C537020
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537020
Entry Term(s)
Dwarfism, cortical thickening of tubular bones, and transient hypocalcemia
Registry Number
0
Heading Mapped to
*Dwarfism
*Hyperostosis, Cortical, Congenital
*Hypocalcemia
Frequency
10
Note
hereditary disorder caused by mutations in the FAM111A gene and characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. OMIM: 127000
Date of Entry
2010/08/25
Revision Date
2018/09/24
Kenny-Caffey syndrome, type 2 Preferred
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