What are the other Names for this Condition? (Also known as/Synonyms)

• Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory And Motor Neuropathy

What is Cervical Hypertrichosis Peripheral Neuropathy? (Definition/Background Information)

• Cervical Hypertrichosis Peripheral Neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy
• It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay
• An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993

(Source: Cervical hypertrichosis-peripheral neuropathy syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Cervical Hypertrichosis Peripheral Neuropathy? (Age and Sex Distribution)

• Cervical Hypertrichosis Peripheral Neuropathy is an extremely rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Cervical Hypertrichosis Peripheral Neuropathy? (Predisposing Factors)

• A positive family history may be an important risk factor, since Cervical Hypertrichosis Peripheral Neuropathy can be reportedly inherited
• Currently, no other risk factors have been clearly identified for the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Cervical Hypertrichosis Peripheral Neuropathy? (Etiology)

• The exact cause of development of Cervical Hypertrichosis Peripheral Neuropathy is presently unknown
• It is reportedly a genetic disorder that is inherited in an autosomal recessive manner

What are the Signs and Symptoms of Cervical Hypertrichosis Peripheral Neuropathy?

The signs and symptoms of Cervical Hypertrichosis Peripheral Neuropathy may include:

• Anterior cervical hypertrichosis
• Motor polyneuropathy
• Sensory neuropathy

Very frequently present symptoms in 80-99% of the cases:

• Dandy-Walker malformation
• EMG abnormality
• Generalized hirsutism

Frequently present symptoms in 30-79% of the cases:

(Source: Cervical Hypertrichosis Peripheral Neuropathy; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Cervical Hypertrichosis Peripheral Neuropathy Diagnosed?

Cervical Hypertrichosis Peripheral Neuropathy is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Cervical Hypertrichosis Peripheral Neuropathy?

The complications of Cervical Hypertrichosis Peripheral Neuropathy may include:

• Neurological abnormalities
• Spinal curvature, in some cases

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Cervical Hypertrichosis Peripheral Neuropathy Treated?

Presently, there is no cure for Cervical Hypertrichosis Peripheral Neuropathy. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Cervical Hypertrichosis Peripheral Neuropathy be Prevented?

Currently, Cervical Hypertrichosis Peripheral Neuropathy may not be preventable, since it is reportedly a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Cervical Hypertrichosis Peripheral Neuropathy? (Outcomes/Resolutions)

• The prognosis of Cervical Hypertrichosis Peripheral Neuropathy is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Cervical Hypertrichosis Peripheral Neuropathy:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/