Myoclonus epilepsy with ragged-red fibers
Nov. 06, 2023
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Over 100 distinct chondrodysplasias have been identified in humans.
Chondrodystrophy is a term that is often interchanged with chondrodysplasia. Chondrodystrophy is a broad term for conditions with impaired cartilage production, which leads to abnormal skeletal growth and formation.
Chondrodysplasia punctata is a group of inherited disorders that affect the skeletal system and the skin, eye, and brain organ systems. This group is characterized by shortened bones and punctate deposits calcium at the end of bones and in the cartilage (hallmark radiographic finding).
Individuals with certain forms of chondrodysplasia punctata have a significantly shortened lifespan and therapy has been predominantly supportive. Recent correlation of the importance of plasmalogens to the development of the central and peripheral nervous system provides a platform for therapeutic interventions that can overcome plasmalogen deficiency found in certain forms of chondrodysplasia.
• There are over 100 distinct chondrodysplasias in humans.
• The term chondrodystrophy is often interchanged to describe chondrodysplasia.
• Chondrodysplasia punctata (CDP) is a group of inherited disorders that affect the skeletal system, the eyes, the brain, and the skin.
• Chondrodysplasia presents with a vast phenotypic and genotypic heterogeneity.
• Classification based on mendelian inheritance is divided into the autosomal recessive type, autosomal dominant type, X-linked recessive type, and X-linked dominant type.
Patients with chondrodysplasia punctata were first described by Conradi in 1914 and Hünermann in 1931 (37). Spranger and associates published a landmark article documenting extreme phenotypic and genetic heterogeneity of chondrodysplasia punctata (34). The classification of chondrodysplasia punctata has evolved over the past 50 years using inheritance patterns, clinical features, pathogenesis, and genetic etiology. An international working group on Constitutional Diseases of Bone was formed in 1972 to help address this variability. The working group identified the importance of creating separate but parallel classification systems with one based on clinical characteristics and another based on molecular pathogenesis. The classification subtypes of chondrodysplasia punctata, based on Mendelian inherited groups, are autosomal recessive CDP, autosomal dominant CDP, X-linked recessive CDP, and X-linked dominant CDP (03). They each have varying clinical manifestations and molecular pathogenesis.
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