<\/span><\/h2>\nCrouzon syndrome is characterized by a variety of developmental and craniofacial symptoms.<\/p>\n
Is a hereditary<\/span> inherited condition in a autosomal<\/span> dominant pattern (an abnormal gene<\/span> from one parent can cause the syndrome). Also known as Crouzon disease, craniofacial dysostosis, craniostenosis, Apert-Crouzon syndrome, type II acrocephalosyndactyly, Vogt's cephalosinodiactyly, and trigorinophalangeal. dysplasia<\/span><\/span>.<\/p>\nIt was first described by Crouzon in 1912.<\/p>\n
<\/span>Who gets Crouzon syndrome?<\/span><\/h2>\nCrouzon syndrome is rare, although it is still the most common craniosynostosis syndrome (where the fibrous joints of the skull close prematurely during childhood).<\/p>\n
\n- It affects 1 in 60,000 live births.<\/li>\n
- It appears to be equally diagnosed in people of all races and ethnicities.<\/li>\n
- It is often diagnosed at birth or in childhood due to distinctive facial features.<\/li>\n<\/ul>\n
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<\/span>What causes Crouzon syndrome?<\/span><\/h2>\nCrouzon syndrome is usually caused by mutations<\/span> at fibroblasts<\/span> growth factor<\/span> receiver<\/span> 2 (FGFR2<\/em>) gen. the FGFR3<\/em> gene may also be involved.<\/p>\n\n- Is mutation<\/span> it signals immature cells to become bone cells during embryogenesis.<\/li>\n
- A family history of Crouzon syndrome is present in 50% cases.<\/li>\n
- In the other 50% cases, the syndrome is sporadic, as a result of new genetic mutations.<\/li>\n<\/ul>\n\n
<\/span>Genetics of Crouzon syndrome *<\/span><\/h5>\n<\/section>\n\n\n
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Crouzon syndrome2<\/p>\n<\/p><\/div>\n<\/section>\n
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* Image courtesy of Genetics 4 Medics<\/p>\n
<\/span>What are the clinical features of Crouzon syndrome?<\/span><\/h2>\nThe clinical features of Crouzon syndrome vary widely and range from mild to severe. The key feature is premature closure of the skull cap and cranial base sutures, and craniosynostosis.<\/p>\n
<\/span>Facial features<\/span><\/h3>\nRelated distinctive facial features include:<\/p>\n
\n- Exophthalmos (abnormal protrusion of the eyeball)<\/li>\n
- Hypertelorism (excessive width between the eyes)<\/li>\n
- Hypoplastic maxilla (an underdeveloped jaw)<\/li>\n
- Mandibular prognathism (protrusion of the lower jaw)<\/li>\n
- A short upper lip<\/li>\n
- A peak nose.<\/li>\n<\/ul>\n
<\/span>Visual defects<\/span><\/h3>\nVisual defects associated with Crouzon syndrome include:<\/p>\n
\n- Amblyopia (darkness of sight with no apparent change in eye structures)<\/li>\n
- Ametropia (refractory error)<\/li>\n
- Strabismus (inability to reach binocular<\/span> vision due to muscle imbalances in the eyeballs). <\/li>\n<\/ul>\n
These visual defects are due to corneal injury, waterfalls<\/span> (a clouding of the lens of the eye or the transparent membrane around it), optical atrophy<\/span> (deterioration of the optic nerve) and coloboma of the iris (a hole in the iris).<\/p>\n<\/span>Other features<\/span><\/h3>\nOther features associated with Crouzon syndrome include:<\/p>\n
\n- Decreased mental function and increased risk intracranial<\/span> pressure and seizures<\/li>\n
- Respiratory symptoms due to narrowing of the nasopharyngeal<\/span> step and deviated pulp<\/span> or other structural abnormalities<\/li>\n
- Hearing loss and \/ or M\u00e9ni\u00e8re<\/span> disease (a disorder of the inner ear characterized by episodes of Vertigo<\/span>, ringing in the ears, hearing loss and pressure in the ear) <\/li>\n
- Skeletal abnormalities, including fusion of the spine.<\/li>\n<\/ul>\n
The main dermatological sign<\/span> of Crouzon syndrome is acanthosis<\/span> nigricans, in which there is thickened, hyperpigmented<\/span> skin with a velvety sensation that affects the neck, torso and face. It usually appears at the beginning of puberty.<\/p>\n\n<\/span>Acanthosis nigricans *<\/span><\/h5>\n<\/section>\n\n\n
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Acanthosis nigricans<\/p>\n
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Acanthosis nigricans<\/p>\n
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Acanthosis nigricans<\/p>\n<\/p><\/div>\n<\/section>\n
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* These patients did not have Crouzon syndrome<\/address>\n<\/address>\n<\/span>How is Crouzon syndrome diagnosed?<\/span><\/h2>\nCrouzon is confidently diagnosed in a child with craniosynostosis when mutations in the FGFR2<\/em> Genes are detected. the genes<\/span> Parents of the affected individual may also be tested for mosaicism (which has cells of two or more genetically different types). <\/p>\n\n
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<\/span>How is Crouzon syndrome treated?<\/span><\/h2>\nStandard treatment for Crouzon syndrome includes early craniectomy (surgical removal of a portion of the skull) and cosmetic reconstruction to help promote normal facial growth.<\/p>\n
Multidisciplinary care can include medical and surgical evaluation and symptom management. This may include:<\/p>\n
\n- \nOphthalmological<\/span> treatment of amblyopia, ametropia and strabismus<\/li>\n
- Audiological treatment and myringotomy for hearing loss.<\/li>\n
- Referral to treat intracranial pressure due to hydrocephalus<\/span> (increased cerebrospinal fluid within the cranial cavity)<\/li>\n
- Tracheostomy (a incision<\/span> in the trachea) to treat airway obstruction<\/li>\n
- Orthodontic surgery to treat irregularities in teeth and jaws.<\/li>\n<\/ul>\n
<\/span>What is the prognosis for Crouzon syndrome?<\/span><\/h2>\nImprovements in surgical techniques, specifically in craniofacial surgery, have greatly increased the quality of life, the intellectual and physical capacities, and the social acceptance of children with Crouzon syndrome.<\/p>\n
The lifespan of people with Crouzon syndrome is generally normal, but mortality can occur due to obstruction of the airways, acute<\/span> respiratory distress or increased intracranial pressure.<\/p>\n<\/section>","protected":false},"excerpt":{"rendered":"\u00bfQu\u00e9 es Crouzon? s\u00edndrome? El s\u00edndrome de Crouzon se caracteriza por una variedad de s\u00edntomas craneofaciales y de desarrollo. Es un hereditario condici\u00f3n heredada en un autos\u00f3mico patr\u00f3n dominante (un…<\/p>","protected":false},"author":8,"featured_media":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","format":"standard","meta":{"footnotes":""},"categories":[204],"tags":[],"class_list":["post-6604","wiki","type-wiki","status-publish","format-standard","category-glosario-definiciones"],"_links":{"self":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/6604","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki"}],"about":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/types\/wiki"}],"author":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/comments?post=6604"}],"version-history":[{"count":0,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/6604\/revisions"}],"wp:attachment":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/media?parent=6604"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/categories?post=6604"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/tags?post=6604"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}