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

• Deafness Conductive Ptosis Skeletal Anomalies
• Jackson Barr Syndrome

What is Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome? (Definition/Background Information)

• Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly)
• In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978

(Source: Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome? (Age and Sex Distribution)

• Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome is a 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 Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome

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 Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome? (Etiology)

The exact cause of Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome is presently unknown.

What are the Signs and Symptoms of Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome?

The signs and symptoms of Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome may include:

• Abnormality of the dentition
• Ectodermal dysplasia
• Chronic otitis media

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

• Abnormality of dental enamel
• Abnormality of the hip bone
• Aplasia/hypoplasia of the middle ear
• Atresia of the external auditory canal
• Blepharophimosis
• Clinodactyly of the 5th finger
• Conductive hearing impairment
• Elbow dislocation
• Epicanthus
• Fine hair
• Narrow nasal bridge
• Ptosis

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

(Source: Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome Diagnosed?

Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome 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 Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome?

The complications of Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome may include:

• Visual abnormality
• Complete hearing loss

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

How is Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome Treated?

There is no cure for Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome be Prevented?

• Currently, Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome may not be preventable, since the cause of this disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome? (Outcomes/Resolutions)

• The prognosis of Deafness Conductive Ptosis Skeletal Anomalies 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 Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome:

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

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