P291: Lenz-Majewski hyperostotic dysplasia: Characterizing the clinical spectrum, defining genotype-phenotype correlation and proposing guidelines for diagnosis and management

Genetics in Medicine Open 2026 Open access

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Authors: Kochakorn Buasri, Anne Michele Slavotinek, Duangrurdee Wattanasirichaigoon
DOI: 10.1016/j.gimo.2026.103785
Cited by: 0

Abstract

Lenz-Majewski Hyperostotic Dysplasia (LMHD) is a rare skeletal dysplasia characterized by cutis laxa followed by progressive bone sclerosis. The condition is inherited in an autosomal dominant manner and caused by gain-of-function variants in PTDSS1. Our study aims to provide an updated clinical resource that captures the full phenotypic spectrum of LMHD and offers practical guidance for diagnosis, management, and genetic counseling.

Fields of Study & Subjects

Connective tissue disorders research Dermatological and Skeletal Disorders Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103785–103785
Publication date
1 January 2026
Language
EN