What is the syndrome leading to dwarfism

What is the syndrome leading to dwarfism

One of the most common osteochondrodysplasias is considered a physeal dysplasia and leads to dwarfism

Achondroplasia is one of the most common skeletal dysplasia occurring in 1 in 25,000 live births. This physeal dysplasia is transmitted as an autosomal dominant trait, although spontaneous mutations are probably responsible for most cases (80%). Mutations have been identified in the fibroblast growth factor receptor 3 ( FGFR3 ) gene. This mutated receptor is constitutively active leading to shortened bones. Achondroplasia is considered a disproportionate dwarfism with rhizomelic (shorter proximal compared with distal) short limbs, macrocephaly with prominent frontal bossing, and some midface hypoplasia. An exaggerated lumbar lordosis is usually seen as well as flexion contractures at the elbows and hips. Intelligence is normal. Mean adult height is approximately 52 inches in men and 49 inches in women. Rheumatologic complaints may stem from a narrowed spinal canal (cervical and lumbar) with symptoms of spinal stenosis or from ligamentous laxity of the knees, leading to complaints of pain and premature degenerative disease. Treatment is symptomatic.


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