| 词条 | Craniometaphyseal dysplasia |
| 释义 |
| name = {{PAGENAME}} | synonyms = | image = | alt = | caption = | pronounce = | field = orthopedic | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Craniometaphyseal dysplasia is a rare skeletal disorder that results from a mutation in the ANKH or GJA1 genes. The condition is characterized abnormal facial features, impairment of cranial nerves, and malformation of the long bones in the limbs.[1] Signs and symptomsSigns and symptoms include:[1]
GeneticsThe autosomal dominant form is caused by a mutation in ANKH on chromosome 5 (5p15.2-p14.1). The autosomal recessive form is caused by a mutation in a mutation in GJA1 on chromosome 6 (6q21-q22).[1] The recessive form tends to be more severe than the dominant form.[2] DiagnosisCraniometaphyseal dysplasia is diagnosed based on clinical and radiographic findings that include hyperostosis. Some things such as cranial base sclerosis and nasal sinuses obstruction can be seen during the beginning of the child's life. In radiographic findings the most common thing that will be found is the narrowing of foramen magnum and the widening of long bones. Once spotted treatment is soon suggested to prevent further compression of the foramen magnum and disabling conditions.{{cn|date=December 2017}} TreatmentThe only treatment for this disorder is surgery to reduce the compression of cranial nerves and spinal cord. However, bone regrowth is common since the surgical procedure can be technically difficult. Genetic counseling is offered to the families of the people with this disorder.[3][4] References1. ^1 2 {{Cite web | url=https://rarediseases.org/rare-diseases/craniometaphyseal-dysplasia/ | title=Craniometaphyseal Dysplasia}} 2. ^{{Cite web | url=https://rarediseases.info.nih.gov/diseases/1581/craniometaphyseal-dysplasia-autosomal-dominant | title=Craniometaphyseal dysplasia, autosomal dominant | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program}} 3. ^{{cite web|url=http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia|title=Craniometaphyseal Dysplasia|accessdate=16 April 2015}} 4. ^{{cite book|url=https://www.ncbi.nlm.nih.gov/books/NBK1461/|title=Craniometaphyseal Dysplasia, Autosomal Dominant|author=Reichenberger E|accessdate=16 April 2015|publisher=University of Washington, Seattle|year=1993}} External links{{Medical resources| ICD10 = | ICD9 = | ICDO = | OMIM = 218400 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 1522 }} 2 : Genetic diseases and disorders|Rare diseases |
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