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achondroplasias

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Definitions of achondroplasias in various dictionaries:

noun - an inherited skeletal disorder beginning before birth

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Plural form of achondroplasia.
A hereditary condition in which the growth of long bones by ossification of cartilage is retarded, resulting in very short limbs and sometimes a face which is small in relation to the skull.

Achondroplasias might refer to
Achondroplasia is a genetic disorder that results in dwarfism. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of 131 centimetres (4 ft 4 in) for males and 123 centimetres (4 ft) for females. Other features include an enlarged head and prominent forehead. Intelligence is generally normal.Achondroplasia is due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. In about 80% of cases this occurs as a new mutation during early development. In the other cases it is inherited from one's parents in an autosomal dominant manner. Those with two affected genes do not typically survive. Diagnosis is generally based on symptoms, but may be supported by genetic testing if uncertain.Treatments may include support groups and growth hormone therapy. Efforts to treat or prevent complications such as obesity, hydrocephalus, obstructive sleep apnea, middle ear infections, or spinal stenosis may be required. Life expectancy of those affected is about 10 years less than average. The condition affects about 1 in 27,500 people. Rates are higher in Denmark and Latin America. The shortest known adult with the condition is Jyoti Amge at 62.8 centimetres (2 ft 0.7 in).

Achondroplasias might refer to

Achondroplasia is a genetic disorder that results in dwarfism. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of 131 centimetres (4 ft 4 in) for males and 123 centimetres (4 ft) for females. Other features include an enlarged head and prominent forehead. Intelligence is generally normal.Achondroplasia is due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. In about 80% of cases this occurs as a new mutation during early development. In the other cases it is inherited from one's parents in an autosomal dominant manner. Those with two affected genes do not typically survive. Diagnosis is generally based on symptoms, but may be supported by genetic testing if uncertain.Treatments may include support groups and growth hormone therapy. Efforts to treat or prevent complications such as obesity, hydrocephalus, obstructive sleep apnea, middle ear infections, or spinal stenosis may be required. Life expectancy of those affected is about 10 years less than average. The condition affects about 1 in 27,500 people. Rates are higher in Denmark and Latin America. The shortest known adult with the condition is Jyoti Amge at 62.8 centimetres (2 ft 0.7 in).

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