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) (Updated 08-Dec-2022)
MalaCards based summary:
Lenz-Majewski Hyperostotic Dwarfism, also known as lenz-majewski syndrome, is related to scarf syndrome and limb-mammary syndrome. An important gene associated with Lenz-Majewski Hyperostotic Dwarfism is PTDSS1 (Phosphatidylserine Synthase 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include bone, skin and tongue, and related phenotypes are macrocephaly and intellectual disability
UniProtKB/Swiss-Prot:
73
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.
Disease Ontology:
11
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.
GARD:
19
An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
Orphanet:
58
An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
Wikipedia:
75
Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism (LMHD), is a skin... more...