Don’t fight Acrodysostosis alone.
Find your community on the free RareGuru App.Acrodysostosis refers to a group of genetic disorders of bone growth. Common signs and symptoms include very short fingers and toes, underdeveloped facial bones, a small nose, and short stature. Many individuals with acrodysostosis have developmental delays and intellectual disability. Individuals with acrodysostosis additionally may have hormone resistance, which means that the body does not respond to the certain hormones. There are two types of this disorder, characterized by the presence or absence of hormone resistance and the underlying genetic cause. Type 1 is caused by mutations in the PRKAR1A gene and may be associated with hormone resistance, whereas type 2 is caused by mutations in the PDE4D gene and is typically not associated with hormone resistance. Both types are inherited in an autosomal dominant manner, with most reported cases occurring for the first time in a family due to a new mutation. Acrodysostosis can be difficult to distinguish from pseudohypoparathyroidism and pseudopseudohypoparathyroidism. While there is no cure for acrodysostosis, treatment is directed toward the specific symptoms in each individual and may require the coordinated efforts of a team of specialists.
Source: GARD Last updated on 05-01-20
The signs and symptoms found in individuals with acrodysostosis may include:
Additional findings may include repeated middle ear infections, hearing loss, obesity, skin lesions, blue eyes, and red or blond hair. In some males, the opening of the urethra is on the underside of the penis rather than the tip (hypospadias) and/or the testes may fail to descend into normal position in the scrotum (cryptorchidism).
Last updated on 05-01-20
The prognosis (long-term outlook) for individuals with acrodysostosis is not known. This is due to the rarity of the disorder and the lack of articles in the medical literature with long-term follow-up. The prognosis may differ depending on the underlying signs and symptoms present in each individual.
Last updated on 05-01-20
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