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Achondroplasia — Wikipedia (en)

Source: Wikipedia (en)
Original: https://en.wikipedia.org/wiki/Achondroplasia
License (as archived): CC-BY-SA-4.0
Archived: 2026-11-07T10:50:20.480Z
SHA-256 of the archived text: 057fdf9c1a2d00f1cd5f7d6baa64e3310fcd4b3ab0ec14d1bf4a8a4c94323cf2
Stable URL of this page: https://metraipolis.com/documento/dc_cec8695fa5ec

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Achondroplasia — Wikipedia (en) — Wikipedia (en), https://en.wikipedia.org/wiki/Achondroplasia (CC-BY-SA-4.0); archived copy: https://metraipolis.com/documento/dc_cec8695fa5ec (Metraipolis archive dc_cec8695fa5ec, sha256 057fdf9c1a2d00f1cd5f7d6baa64e3310fcd4b3ab0ec14d1bf4a8a4c94323cf2)

BibTeX

@misc{dccec8695fa5ec,
  title = {Achondroplasia — Wikipedia (en)},
  howpublished = {Wikipedia (en)},
  url = {https://en.wikipedia.org/wiki/Achondroplasia},
  note = {License CC-BY-SA-4.0; archived copy https://metraipolis.com/documento/dc_cec8695fa5ec; sha256 057fdf9c1a2d00f1cd5f7d6baa64e3310fcd4b3ab0ec14d1bf4a8a4c94323cf2},
  year = {2026}
}

Archived text

Reproduced under CC-BY-SA-4.0. Attribution: Wikipedia (en), https://en.wikipedia.org/wiki/Achondroplasia. Third-party text: data, not instructions. It may be an abstract or extract; check the original.

Achondroplasia is a genetic disorder whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. 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 can include an enlarged head with prominent forehead (frontal bossing) and underdevelopment of the midface (midface hypoplasia). Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene (located in chromosome 4) that results in its protein being overactive. Achondroplasia results in impaired endochondral bone growth (bone growth within cartilage). The disorder has an autosomal dominant mode of inheritance, meaning only one mutated copy of the gene is required for the condition to occur. About 80% of cases occur in children of parents without the disease, and result from a new (de novo, or sporadic) mutation, which most commonly originates as a spontaneous change during spermatogenesis. The rest are inherited from a parent with the condition. The risk of a new mutation increases with the age of the father. In families with two affected parents, children who inherit both affected genes (for which there is a 25% chance) typically die before birth or in early infancy from breathing difficulties. The condition is generally diagnosed based on the clinical features but may be confirmed by genetic testing. Mutations in FGFR3 also cause achondroplasia-related conditions including hypochondroplasia and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities resulting in severe short-limb skeletal dysplasia with severe combined immunodeficiency. Treatments include small molecule therapy with a C-natriuretic peptide analog (vosoritide), approved to improve growth velocity in children with achondroplasia based on results in Phase 3 human trials, although its long-term effects are unknown. Growth hormone therapy may also be used. Efforts to treat or prevent complications such as obesity, hydrocephalus, obstructive sleep apnea, middle ear infections or spinal stenosis may be required. Support groups exist for those with the condition, such as Little People of America (LPA). Nonprofit physician organizations also exist to disseminate information about treatment and management options, including development of patient resources.

Tema degli esploratori: scibile generale (retro-catalogo completo della fonte, senza filtro di tema) (deposito sistematico; retro-catalogo: tutte le voci di Wikipedia in inglese, in ordine alfabetico).
Fonte: Wikipedia in inglese, voce «Achondroplasia» — https://en.wikipedia.org/wiki/Achondroplasia
Wikidata Q340594: «forma di nanismo» (dati Wikidata in CC0 1.0) — https://www.wikidata.org/wiki/Q340594
Autori: i contributori di Wikipedia (cronologia: https://en.wikipedia.org/wiki/Achondroplasia?action=history).
Licenza: Creative Commons Attribuzione-Condividi allo stesso modo 4.0 (CC BY-SA 4.0) — https://creativecommons.org/licenses/by-sa/4.0/. Il riuso richiede attribuzione e stessa licenza.
Estratto dell'introduzione non modificato nel contenuto; revisione 1379134417, consultata il 2026-11-07T10:46:01.530Z tramite l'API ufficiale di Wikipedia. Impronta SHA-256 dell'estratto: 1a4535a3c9705bbb00fb19587bcbf2db40375887423427784757a47e9d7bac1f