CAMFAK syndrome is an acronym used to describe a rare inherited neurologic

Neurology

Neurology is a medical specialty dealing with disorders of the nervous system. Specifically, it deals with the diagnosis and treatment of all categories of disease involving the central, peripheral, and autonomic nervous systems, including their coverings, blood vessels, and all effector tissue,...

 disease, characterized by peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome

Cockayne syndrome

Cockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...

. The name "CAMFAK" comes from the first letters of the characteristic findings of the disease: cataract

Cataract

A cataract is a clouding that develops in the crystalline lens of the eye or in its envelope, varying in degree from slight to complete opacity and obstructing the passage of light...

s, microcephaly

Microcephaly

Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...

, failure to thrive

Failure to thrive

Failure to thrive is a medical term which is used in both pediatric and adult human medicine, as well as veterinary medicine ....

, and kyphoscoliosis

Kyphoscoliosis

Kyphoscoliosis describes an abnormal curvature of the spine in both a coronal and sagittal plane. It is a combination of kyphosis and scoliosis. Kyphoscoliosis is a musculoskeletal disorder causing chronic underventilation of the lungs and may be one of the major causes of pulmonary hypertension...

. The disease may occur with or without failure to thrive and arthrogryposis

Arthrogryposis

Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder that is characterized by multiple joint contractures and can include muscle weakness and fibrosis. It is a non-progressive disease...

.

Characteristics

Low birth weight and a bird-like face may be the first signs. Severe intellectual deficit and death within the first decade are typical.

Genetics

CAMFAK syndrome is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome

Autosome

An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...

, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry

Genetic carrier

A genetic carrier , is a person or other organism that has inherited a genetic trait or mutation, but who does not display that trait or show symptoms of the disease. They are, however, able to pass the gene onto their offspring, who may then express the gene...

 one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

External links

• Wiley InterScience Journal
• Overview at Orphanet
  Orphanet
  Orphanet is a European website providing information about orphan drugs and rare diseases. It contains content both for physicians and for patients. Its administrative office is in Paris. The organisation also publishes the open-access online journal Orphanet Journal of Rare Diseases.-External...