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Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. [ 3 ]
Achondrogenesis type 1B is a severe autosomal recessive skeletal disorder, invariably fatal in the perinatal period. [1] It is distinguished by its elongated, spherical midsection, small chest, and exceedingly short limbs. The feet can turn inward and upward , and the fingers and toes are little.
The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI .
DXA has been demonstrated to measure skeletal maturity [11] and body fat composition [12] and has been used to evaluate the effects of pharmaceutical therapy. [13] It may also aid pediatricians in diagnosing and monitoring treatment of disorders of bone mass acquisition in childhood.
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6]
Phosphofructokinase deficiency is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern. It is characterized as a deficiency in the Phosphofructokinase (PFK) enzyme throughout the body, including the skeletal muscles and red blood cells. Phosphofrucotkinase is an enzyme involved in the glycolytic process.
Axial osteosclerosis, also known as osteomesopyknosis, is a bone disorder that causes osteosclerosis on the axial spine, pelvis and proximal part of the long bones. It is an autosomal-dominant disease. As of 2024, the exact causes were unknown. [1]