Familial synovial chondromatosis with dwarfism | |
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Other names | Synovial chondromatosis, familial with dwarfism |
Specialty | Medical genetics |
Symptoms | Combination of synovial chondromatosis and dwarfism |
Usual onset | Birth |
Duration | Lifelong |
Prevention | none |
Prognosis | good |
Frequency | rare |
Deaths | – |
Familial synovial chondromatosis with dwarfism is a rare genetic disorder characterized by a combination of both synovial chondromatosis and dwarfism. [1] [2] Only 3 families from Germany and the United States worldwide have been described with the disorder, and they showed either X-linked or autosomal dominant inheritance. [3] [4] [5]
Synovial osteochondromatosis (SOC) (synonyms include synovial chondromatosis, primary synovial chondromatosis, synovial chondrometaplasia) is a rare disease that creates a benign change or proliferation in the synovium or joint-lining tissue, which changes to form bone-forming cartilage. In most occurrences, there is only one joint affected, either the knee, the hip, or the elbow. Rarely involves the TMJ.
The atlanto-occipital joint is an articulation between the atlas bone and the occipital bone. It consists of a pair of condyloid joints. It is a synovial joint.
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Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis, a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence. The disease was first reported in 1970 by Leonard Langer and associates; they used the term parastremmatic from the Greek parastremma, or distorted limbs, to describe it. On X-rays, the disease is distinguished by a "flocky" or lace-like appearance to the bones. The disease is congenital, which means it is apparent at birth. It is caused by a mutation in the TRPV4 gene, located on chromosome 12 in humans. The disease is inherited in an autosomal dominant manner.
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Familial episodic pain syndrome, also known simply as FEPS, is a group of rare genetic peripheral neuropathies which are characterized by recurrent random episodes of intense pain which occur most often in the upper or lower parts of the body occurring in several members of the same family. They are often triggered by cold temperatures, physical exercise, fatigue, etc. It may or may not get better with age.
Boucher-Neuhäuser syndrome is a very rare genetic disorder which is characterized by a triad consisting of cerebellar ataxia, chorioretinal dystrophy, and hypogonadism.
Gollop-Wolfgang complex is a very rare genetic disorder which is characterized by skeletal and digital anomalies.
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Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by a combination of aplasia cutis congenita, high myopia, and dysfunction of the cone-rods. Other findings include congenital nystagmus, atrophy of the iris and pigment epithelium, easily scarred skin and keratoconus. Only 4 cases have been described in medical literature. Transmission is either autosomal dominant or autosomal recessive.