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]
The 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]
DiagnosisEdit
Craniometaphyseal 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.[citation needed]
TreatmentEdit
The 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]
^"Craniometaphyseal dysplasia, autosomal dominant | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
^"Craniometaphyseal Dysplasia". Retrieved 16 April 2015.
^Reichenberger E (1993). Craniometaphyseal Dysplasia, Autosomal Dominant. University of Washington, Seattle. PMID 20301634. Retrieved 16 April 2015.
External linksEdit
August 29, 2023
craniometaphyseal, dysplasia, rare, skeletal, disorder, that, results, from, mutation, ankh, gja1, genes, condition, characterized, abnormal, facial, features, impairment, cranial, nerves, malformation, long, bones, limbs, girl, with, craniometaphyseal, dyspla. 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 Craniometaphyseal dysplasiaGirl with craniometaphyseal dysplasiaSpecialtyOrthopedic Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 4 Treatment 5 References 6 External linksSigns and symptoms Edit Frontal view of girl with craniometaphyseal dysplasiaSigns and symptoms include 1 Eating and breathing difficulties Hypertelorism Wide nasal bridge Large lower jaw Proptosis Dolichocephaly Delayed or absent teeth Small nasal passageLong term severe effects from untreated head and face pressure include cranial nerve paralysis hearing loss deafness and blindness Genetics EditThe 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 Diagnosis EditCraniometaphyseal 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 citation needed Treatment EditThe 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 References Edit a b c Craniometaphyseal Dysplasia Craniometaphyseal dysplasia autosomal dominant Genetic and Rare Diseases Information Center GARD an NCATS Program Craniometaphyseal Dysplasia Retrieved 16 April 2015 Reichenberger E 1993 Craniometaphyseal Dysplasia Autosomal Dominant University of Washington Seattle PMID 20301634 Retrieved 16 April 2015 External links Edit Retrieved from https en wikipedia org w index php title Craniometaphyseal dysplasia amp oldid 1162678030, wikipedia, wiki, book, books, library,
