Craniometaphyseal dysplasia is a rare skeletal disorder that results from a mutation in the ANKH or

GJA1 Gap junction alpha-1 protein (GJA1), also known as connexin 43 (Cx43), is a protein that in humans is encoded by the ''GJA1'' gene on chromosome 6. As a connexin, GJA1 is a component of gap junctions, which allow for gap junction intercellular ...

genes. The condition is characterized abnormal facial features, impairment of cranial nerves, and malformation of the long bones in the limbs.

Signs and symptoms

Signs and symptoms include: * Eating and breathing difficulties *

Hypertelorism Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as ...

* Wide nasal bridge * Large lower jaw * Proptosis * Dolichocephaly * Delayed or absent teeth * Small

nasal passage The nasal cavity is a large, air-filled space above and behind the nose in the middle of the face. The nasal septum divides the cavity into two cavities, also known as fossae. Each cavity is the continuation of one of the two nostrils. The nasal c ...

Long-term severe effects from untreated head and face pressure include

cranial nerve Cranial nerves are the nerves that emerge directly from the brain (including the brainstem), of which there are conventionally considered twelve pairs. Cranial nerves relay information between the brain and parts of the body, primarily to and ...

paralysis, hearing loss/ deafness, and blindness.

Genetics

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

on chromosome 6 (6q21-q22). The recessive form tends to be more severe than the dominant form.

Diagnosis

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.

Treatment

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.

References

External links

{{Medical resources , ICD10 = , ICD9 = , ICDO = , OMIM = 218400 , DiseasesDB = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeSH = , GeneReviewsNBK = , GeneReviewsName = , Orphanet = 1522 Genetic diseases and disorders Rare diseases