Search results
Results from the WOW.Com Content Network
An osteochondrodysplasia, [note 1] or skeletal dysplasia, is a disorder of the development of bone and cartilage. [1] Osteochondrodysplasias are rare diseases . About 1 in 5,000 babies are born with some type of skeletal dysplasia. [ 2 ]
Achondrogenesis, type 2 is an uncommon skeletal dysplasia that is autosomal dominant and occurs at a frequency of approximately 0.2 per 100,000 births. [1] Also known by the name Langer-Saldino achondrogenesis, it is one of the fatal short-limbed dwarfisms linked to structural mutations in type II collagen.
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare autosomal recessive type of achondroplasia which is characterized by short stature, bowing of the long bones, and generalized metaphyseal abnormalities alongside signs of SCID such as recurrent severe infections, failure to thrive, chronic diarrhea, and a notable absence of T and B lymphocytes.
Spondyloenchondrodysplasia is the medical term for a rare spectrum of symptoms that are inherited following an autosomal recessive inheritance pattern. Skeletal anomalies (including abnormal bone growths) are the usual symptoms of the disorder, although its phenotypical nature is highly variable among patients with the condition, including symptoms such as muscle spasticity or thrombocytopenia ...
Many of the features of SADDAN are similar to those seen in other skeletal disorders, specifically achondroplasia and thanatophoric dysplasia. Achondroplasia is a form of short-limbed dwarfism. This type of dwarfism is caused by the inability of the cartilage of the skeleton to ossify and turn to bone. [5]
Over 100 specific skeletal dysplasias have been identified. Chondrodystrophy is found in all races and in both females and male and occurs in around one of every 25,000 children. Chondrodystrophy and achondroplasia are the most common forms of genetic hyaline disorders.
These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of their serious health problems, infants with achondrogenesis are usually born prematurely, are stillborn, or die shortly after birth from respiratory failure. Some infants, however, have lived for a while with intensive medical support.
Genetic skeletal dysplasias or Osteochondrodysplasia frequently lead to short stature, occasionally termed dwarfism, which is classified into proportionate and disproportionate short stature. Disproportionate short stature is further classified short-limb short stature and short-trunk short stature.