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Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3] In those with the condition, the arms and legs are short, while the torso is typically of normal length. [3]
This condition was first discovered in 1995 by Melberg et al. when they described 5 members of a 4-generation Swedish family where cerebellar ataxia and sensorineural deafness presented as an autosomal dominant trait, 4 of them had narcolepsy and 2 had diabetes mellitus. The oldest members had psychiatric symptoms, neurological anomalies, and ...
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene that results in a disproportionately short stature, micromelia [3] and a head that appears large in comparison with the underdeveloped portions of the body.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Since the disease is inherited as an autosomal dominant trait, there is a Mendelian risk of 50% for subsequent generations regardless of their sex. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family.
Autosomal dominant cerebellar ataxia; Other names: Autosomal dominant spinocerebellar ataxia [1] Autosomal dominant is the manner in which this condition is inherited: Symptoms: Multi system involvement [2] Types: ADCS type1, ADCA type 2, ADCA type 3 [2] Diagnostic method: MRI, CT scan [3] Treatment: Anticonvulsants may be used [2]
In 1981, Malleson et al. reported a family that had autosomal dominant synovitis, camptodactyly, and iridocyclitis. [8] One member died of granulomatous arteritis of the heart and aorta. In 1982, Rotenstein reported a family with granulomatous arteritis, rash, iritis , and arthritis transmitted as an autosomal dominant trait over three generations.
Marfan syndrome is inherited in an autosomal-dominant pattern. Each parent with the condition has a 50% risk of passing the genetic defect on to any child due to its autosomal dominant nature. Most individuals with MFS have another affected family member. About 75% of cases are inherited. [1]