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Lenz-Majewski hyperostotic dwarfism

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
Uniprot Description A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction.
Mondo Term and Equivalent IDs
MONDO:0007892:  Lenz-Majewski hyperostotic dwarfism
DOID:0111507: 
GARD:0003223: 
MESH:C537115: 
Orphanet:2658: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)