Lenz-Majewski Hyperostotic Dwarfism (LMHD)

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Disease Ontology 12 DOID:0111507 OMIM 56 151050 KEGG 36 H01832 MeSH 43 C537115 D004392 D008607 D015576 more MESH via Orphanet 44 C537115 ICD10 via Orphanet 33 Q87.1

UMLS via Orphanet 72 C0432269 Orphanet 58 ORPHA2658 MedGen 41 C0432269 SNOMED-CT via HPO 68 109504005 111266001 123983008 18910001 1926006 193093009 194021007 199612005 201093004 202271004 202289003 202307002 204508009 204878001 204888000 205329008 22006008 22033007 224958001 22810007 228156007 230745008 231841004 237836003 237837007 247578003 249380003 249680009 249769001 253143001 263681008 26825009 268251006 271611007 275480001 276709006 277797007 306963008 32614006 32958008 34048007 36440009 367489004 373413006 3961000119101 396232000 398151007 398152000 40159009 406477003 414564002 422065006 422775003 4287008 432788009 43437003 43476002 48130008 50063009 5102002 58588007 60700002 61152003 64217002 69056000 82779003 90145001 91138005 95666008 more UMLS 71 C0432269

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2658 Definition An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. Epidemiology Nine cases have been reported in the literature. Clinical description Marked 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 counseling The elevated age of some patient's fathers of the reported families is suggestive of an autosomal dominant de 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 lateral meningocele 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 heart, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : ¹² A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has material basis in heterozygous mutation in PTDSS1 on chromosome 8q22.1.

OMIM : ⁵⁶ 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)

KEGG : ³⁶ Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism, is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous and distal-limb anomalies. Mutations in the PTDSS1 gene coding one of the phosphatidylserine (PS) synthase enzymes, PSS1, have been described as causative in LMS patients. Such mutations render PSS1 insensitive to feedback inhibition by PS levels.

UniProtKB/Swiss-Prot : ⁷³ 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.

Wikipedia : ⁷⁴ Lenz-Majewski syndrome is a skin condition characterized by hyperostosis, craniodiaphyseal dysplasia,... more...

Clinical features from OMIM:

151050

Search Clinical Trials , NIH Clinical Center for Lenz-Majewski Hyperostotic Dwarfism

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