Lenz-Majewski syndrome

Lenz-Majewski syndrome

A skin condition characterised by hyperostosis, craniodiaphyseal dysplasia, dwarfism, cutis laxa, prominent veins, bony sclerosis, proximal symphalangism, syndactyly, brachydactyly, mental retardation, enamel hypoplasia and hypertelorism. While it is presumed to have genetic cause, the defective gene has not been identified.

Lenz,

Widukind D., German geneticist, 1919-1995.
Lenz-Majewski syndrome - congenital anomalies, mental retardation, sclerosis of the skeletal system.
Lenz syndrome - inherited X-linked trait consisting of multiple abnormalities.

Majewski,

Frank, German pediatrician and human geneticist, 1941–.
Lenz-Majewski syndrome - see under Lenz
Majewski syndrome - fatal form of neonatal dwarfism.
Mohr-Majewski syndrome - see under Mohr, Otto Lous
References in periodicals archive ?
Findings of developmental delay, failure to thrive, large head with frontal bossing, wide open fontannels, hypertelorism of the eyes, short neck with thin lax skin and skeletal abnormalities are the features consistent with other cases of Lenz-Majewski syndrome described in literature.
The skeletal changes of Lenz-Majewski syndrome previously reported, comprise of progressive hyperostosis of craniofacial bones, cortical thickening of diaphysis of tubular bones and brachymesophalangy with proximal symphalangism.
Lenz-Majewski syndrome is a rare condition and the existent literature demonstrates a variable and extensive heterozygous phenotypic presentation of the syndrome.
Lenz-Majewski syndrome. Radiology 1983; 149: 129-31.