Lenz-Majewski Hyperostotic Dwarfism (LMHD)

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OMIM 57 151050 KEGG 37 H01832 MeSH 44 D004392 D008607 D015576 MESH via Orphanet 45 C537115 ICD10 via Orphanet 34 Q87.1

UMLS via Orphanet 73 C0432269 Orphanet 59 ORPHA2658 MedGen 42 C0432269 UMLS 72 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: 2658DefinitionAn 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 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 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)

KEGG : ³⁷ 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 : ⁷⁴ 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 : ⁷⁵ 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.