Léri-Weill dyschondrosteosis
Encyclopedia
Léri-Weill dyschondrosteosis or LWD is a rare genetic disorder
which results in dwarfism
with short forearms and legs (mesomelic dwarfism) and a particular deformity of the forearms (Madelung's deformity
).
s in the SHOX
gene
found in the pseudoautosomal region
PAR1 of the X
and Y chromosome
s.
Variant deletions have been identified.
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
which results in dwarfism
Dwarfism
Dwarfism is short stature resulting from a medical condition. It is sometimes defined as an adult height of less than 4 feet 10 inches , although this definition is problematic because short stature in itself is not a disorder....
with short forearms and legs (mesomelic dwarfism) and a particular deformity of the forearms (Madelung's deformity
Madelung's deformity
Madelung's deformity is usually characterized by malformed wrists and wrist bones and short stature and is often associated with Léri-Weill dyschondrosteosis...
).
Causes
It is often caused by mutationMutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
s in the SHOX
Short stature homeobox gene
Short stature homeobox gene or SHOX is a gene on the X chromosome and Y chromosome which is associated with short stature in humans if mutated or present in only one copy .-Pathology:...
gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
found in the pseudoautosomal region
Pseudoautosomal region
The pseudoautosomal regions, PAR1 and PAR2 are homologous sequences of nucleotides on the X and Y chromosomes.The pseudoautosomal regions get their name because any genes located within them are inherited just like any autosomal genes...
PAR1 of the X
X chromosome
The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals and is common in both males and females. It is a part of the XY sex-determination system and X0 sex-determination system...
and Y chromosome
Y chromosome
The Y chromosome is one of the two sex-determining chromosomes in most mammals, including humans. In mammals, it contains the gene SRY, which triggers testis development if present. The human Y chromosome is composed of about 60 million base pairs...
s.
Variant deletions have been identified.