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

• Corneal Clouding, Cutis Laxa and Mental Retardation
• Cutis Laxa Growth Deficiency Syndrome
• Progeroid Syndrome, De Barsy type

What is De Barsy Syndrome? (Definition/Background Information)

• De Barsy Syndrome is a rare genetic disorder originally described in 1968 and classified as a form of cutis laxa. Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, and lacking elasticity
• The specific symptoms and the severity of De Barsy Syndrome can vary greatly. Features that may be seen include eye abnormalities, growth abnormalities, and a prematurely-aged appearance. Distinctive facial features, skeletal malformations, and neurological abnormalities may also occur
• Some cases of De Barsy Syndrome have been linked to mutations in either the PYCR1 or ALDH18A1 genes. De Barsy Syndrome is inherited in an autosomal recessive manner
• There are no standardized treatment protocols; treatment generally focuses on the signs and symptoms present in each individual

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

Who gets De Barsy Syndrome? (Age and Sex Distribution)

• De Barsy 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 De Barsy Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since De Barsy Syndrome can be inherited

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 De Barsy Syndrome? (Etiology)

• Some cases of De Barsy Syndrome have been linked to mutations in either the PYCR1 or ALDH18A1 genes
• De Barsy Syndrome is inherited in an autosomal recessive manner

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

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of De Barsy Syndrome?

The signs and symptoms of De Barsy Syndrome may include:

• Adducted thumb; the thumb may be clasped or bent
• Athetosis; characterized by convoluted movements
• Brachycephaly; abnormally-shaped skull
• Cataract
• Congenital hip dislocation
• Corneal arcus; eye abnormality
• Cryptorchidism; absence of testis/testes within the scrotal sac
• Cutis laxa; condition characterized by loose and inelastic skin
• Delayed skeletal maturation, or delayed bone age
• Failure to thrive
• Frontal bossing; prominent forehead
• Hyperreflexia; overreaction of central nervous system to stimuli
• Hypertelorism; increased space between two organs
• Hypotelorism; decreased space between two organs
• Inguinal hernia
• Intellectual disability
• Intrauterine growth retardation
• Joint hypermobility; abnormal range of joint movement
• Large fontanelles; large soft spots/gaps between the cranial bones
• Low-set ears
• Macrotia; abnormally-large ears
• Muscular hypotonia; low muscle tone
• Myopia or short sight
• Narrow mouth
• Narrow nasal ridge
• Pectus excavatum; condition of sunken breastbone
• Prominent superficial blood vessels
• Scoliosis; abnormally-curved spine
• Seizures
• Severe short stature
• Sparse hair
• Strabismus or crossed eyes
• Talipes equinovarus or club foot
• Thin skin
• Umbilical hernia
• Wide cranial sutures
• Wormian bones; presence of additional bones within the cranium

Based on the frequency of symptoms observed, occasional symptoms in 5%-29% of De Barsy Syndrome cases include cryptorchidism.

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

How is De Barsy Syndrome Diagnosed?

De Barsy 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 De Barsy Syndrome?

The complications of De Barsy Syndrome may include:

• Severe physical deformity
• Severe intellectual deficit
• Quality of life is severely hampered

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

How is De Barsy Syndrome Treated?

There is no cure for De Barsy Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can De Barsy Syndrome be Prevented?

Currently, De Barsy Syndrome is not preventable, since it may be a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• 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 De Barsy Syndrome? (Outcomes/Resolutions)

• The prognosis of De Barsy 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 De Barsy Syndrome:

• De Barsy Syndrome is also known by the following names: Progeroid Syndrome of De Barsy

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

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