Lenz-Majewski Hyperostotic Dwarfism

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OMIM 57 151050 Orphanet 59 ORPHA2658 UMLS via Orphanet 74 C0432269 MESH via Orphanet 45 C537115 ICD10 via Orphanet 34 Q87.1

MedGen 42 C0432269 MeSH 44 D004392 D008607 D015576 KEGG 37 H01832 SNOMED-CT via HPO 69 263681008 396232000 204878001 406477003 4287008 204888000 48130008 40159009 422775003 249380003 32614006 43437003 18910001 230745008 276709006 271611007 82779003 109504005 22810007 194021007 22006008 32958008 275480001 69056000 60700002 306963008 204508009 249680009 277797007 26825009 58588007 43476002 373413006 228156007 247578003 91138005 398151007 398152000 224958001 5102002 253143001 36440009 432788009 199612005 22033007 201093004 90145001 61152003 111266001 64217002 123983008 414564002 202271004 205329008 202307002 237836003 237837007 422065006 3961000119101 249769001 268251006 34048007 202289003 231841004 193093009 95666008 1926006 367489004 50063009 more UMLS 73 C0432269

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2658Disease definitionLenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.EpidemiologyNine cases have been reported in the literature.Clinical descriptionMarked hypertelorism and broad forehead are noted in all patients as well as large ears. Loose and wrinkled atrophic skin with prominent veins is also apparent, giving the patient a progeroid appearance. Increasing generalized osteosclerosis of tubular bones, vertebrae and cranial bones is a characteristic feature. Cutaneous syndactyly of 2nd to 5th fingers was observed in all patients, as well as brachydactyly (see this term) and proximal symphalangism (see this term). All patients have moderate to severe intellectual deficit.Genetic counselingThe elevated age of some patient's fathers of the reported families is suggestive of an autosomal dominantde novo mutation.Visit the Orphanet disease page for more resources.

MalaCards based summary : Lenz-Majewski Hyperostotic Dwarfism, also known as lenz-majewski syndrome, is related to limb-mammary syndrome and scarf syndrome. An important gene associated with Lenz-Majewski Hyperostotic Dwarfism is PTDSS1 (Phosphatidylserine Synthase 1), and among its related pathways/superpathways is Glycerophospholipid metabolism. Affiliated tissues include bone, skin and tongue, and related phenotypes are macrocephaly and hypertelorism

OMIM : ⁵⁷ Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014). (151050)

UniProtKB/Swiss-Prot : ⁷⁵ Lenz-Majewski hyperostotic dwarfism: 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.

Clinical features from OMIM:

151050

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Search GEO for disease gene expression data for Lenz-Majewski Hyperostotic Dwarfism.