Lenz–Majewski syndrome (LMS), also known as Lenz–Majewski hyperostotic dwarfism (LMHD), is a skin condition characterized by
hyperostosis,
craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy.
These calcium deposits de ...
, dwarfism,
cutis laxa, proximal
symphalangism
The phalanges (singular: ''phalanx'' ) are digital bones in the hands and feet of most vertebrates. In primates, the thumbs and big toes have two phalanges while the other digits have three phalanges. The phalanges are classed as long bones.
...
,
syndactyly,
brachydactyly, intellectual disability,
enamel hypoplasia and
hypertelorism.
[James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .]
Genetics
In 2013,
whole-exome sequencing showed that a
missense mutation resulting in overactive
phosphatidylserine synthase 1 was the cause of LMS, making it the first known human disease to be caused by disrupted
phosphatidylserine metabolism. The researchers suggested a link between the condition and
bone metabolism
Bone remodeling (or bone metabolism) is a lifelong process where mature bone tissue is removed from the skeleton (a process called ''bone resorption'') and new bone tissue is formed (a process called ''ossification'' or ''new bone formation''). T ...
.
See also
*
Skin lesion
References
External links
*
Genodermatoses
Genetic disorders with OMIM but no gene
Syndromes
{{Genodermatoses-stub