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

• Absent Eyebrows and Eyelashes with Mental Retardation
• Mental Retardation, Absence of Eyebrows and Eyelashes, Progressive Spastic Quadriplegia, Microcephaly, Glaucoma, and Small, Beaked Nose

What is Pseudoprogeria Syndrome? (Definition/Background Information)

• Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose
• It has been described in two brothers

(Source: Pseudoprogeria Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Pseudoprogeria Syndrome? (Age and Sex Distribution)

• Pseudoprogeria Syndrome is an extremely rare congenital disorder with only a handful of cases being reported in the medical literature
• 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 Pseudoprogeria Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Pseudoprogeria 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 Pseudoprogeria Syndrome? (Etiology)

The exact cause of development of Pseudoprogeria Syndrome is unknown.

What are the Signs and Symptoms of Pseudoprogeria Syndrome?

The signs and symptoms of Pseudoprogeria Syndrome may include:

• Absent eyebrow
• Absent eyelashes
• Intellectual disability

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

• Alopecia
• Bird-like facies
• Convex nasal ridge
• Cranium bifidum occultum
• Glaucoma
• Hypotrichosis
• Joint stiffness
• Microcephaly
• Narrow nasal tip
• Progressive spastic quadriplegia
• Sparse and thin eyebrow
• Sparse hair
• Spinal arachnoid cyst
• Thin skin

Very rarely present symptoms in 1-4% of the cases:

• Encephalocele
• Short nose

(Source: Pseudoprogeria Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Pseudoprogeria Syndrome Diagnosed?

Pseudoprogeria 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 Pseudoprogeria Syndrome?

The complications of Pseudoprogeria Syndrome may include:

• Failure to thrive
• Severe brain abnormalities
• Emotional stress due to appearance

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

How is Pseudoprogeria Syndrome Treated?

Presently, there is no cure for Pseudoprogeria Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Pseudoprogeria Syndrome be Prevented?

• Currently, Pseudoprogeria Syndrome may not be preventable, since it is a disorder of unknown cause
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Pseudoprogeria Syndrome? (Outcomes/Resolutions)

• The prognosis of Pseudoprogeria Syndrome 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 Pseudoprogeria Syndrome:

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

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