Leri-Weill disease

Leri-Weill disease: Description, Causes and Risk Factors: Abbreviation: LWD. Alternative Names: Leri-Weill syndrome, dyschondrosteosis, Leri pleonosteosis. LWD is an autosomal dominant form of mesomelic dysplasia (dwarfism) condition which occurs in 1/100,000 individuals. The disease is more common in female than male. Leri-Weill diseaseApproximately 60-70% of individuals with LWD have mutations in the SHOX gene (short stature homeobox gene) located in the pseudoautosomal region of the X and Y chromosomes. This region is so-called because it is comprised of homologous sequences which are present on both sex chromosomes. In contrast, the remaining genes on the sex chromosomes are nonhomologous. Normal males and females therefore have two copies of the genes in the pseudoautosomal region. Due to the location of this gene, this condition is inherited in a dominant fashion. This means that an individual with LWD has a 50% chance of passing the condition on with each pregnancy regardless if their offspring is male or female. In familial Leri-Weill disease, both point mutations and deletions have been found in family groups. These include large deletions of multiple exons (coding regions) in the SHOX gene, as well as small deletions in a single exon. As well, several types of point mutation, including frameshift and missense mutations, have been noted. A child that is born with Leri-Weill disease will have short arms and short legs, as well as bone abnormalities of the wrist and arm. The chest and head will be of normal size. The child could experience hip abnormalities and wide bones in the fingers and toes. Signs and Symptoms: Shortened, bowed bones in the forearms especially radius and ulna.
  • Madelung deformity (abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocation of the end portion of the ulna.
  • Mesomelic dwarfism (Unusually short lower legs, and associated short stature).
  • Affected individuals may also exhibit abnormalities of the humerus; abnormal bony growths projecting outward from the surface of the shin bones (tibia); unusually short, broad bones in the fingers and toes; and/or abnormalities of the hipbone (coxa valga).
Diagnosis: Differential diagnoses include multiple epiphyseal dysplasia, enchondromatosis, multiple exostoses, Turner's syndrome, achondroplasia, chondroectodermal dysplasia, hypoparathyroidism. Diagnosis of Leri-Weill disease is usually made from physical examination by a medical geneticist and x rays of the legs and arms. Genetic testing is currently available and results take approximately 2-3 weeks. Array CGH can be used to detect mutations, deletions, and duplications of the mutation gene. Prenatal diagnosis through amniocentesis is available. Treatment: There is no exact cure for Leri-Weill disease, treatments include giving growth hormones (GH therapy). Many factors are known to determine the effectiveness of GH therapy. These include age at initiation of GH therapy, duration of GH therapy, the GH dose, timing of GH administration and, of course, individual patient characteristics such as height and weight. Other treatment options include respective surgeries and physical therapy. Disclaimer:The above information is general information (informational purposes only). The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.  


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