About de barsy syndrome

What is de barsy syndrome?

De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable presentations involving complicated patterns of ocular, facial, skeletal, dermatologic and neurological abnormalities.

What are the symptoms for de barsy syndrome?

Stunted growth symptom was found in the de barsy syndrome condition

De barsy syndrome is a rare genetic disorder that affects the skin, eyes, skeletomuscular and nervous system.

  • It is so rare that only 27 cases have been reported worldwide. It is a genetic disorder, and the conditions are very similar to those of cutis laxa syndrome.
  • The disease has multiple other names; De Barsy-Moens-Diercks syndrome, corneal clouding-cutis laxa-mental retardation, and progeroid syndrome of De Barsy.
  • The causative gene mutations have not been known yet.


  • The symptoms and the underlying cause of the disease are yet not fully understood. The presentation of symptoms is highly variable.
  • Affected infants appear prematurely aged due to loose, saggy inelastic skin and mid-face hypoplasia. In some cases, the skin is so thin that the veins underneath the skin are visible.
  • Other abnormal facial features include a prominent forehead, hypertelorism, dysplastic ears, and thin lips. The child may also have microcephaly.
  • Skeletomuscular abnormalities include hypotonia, abnormally loose joints, frequent dislocations; sometimes partial dislocations, contractures, and low bone densities.
  • Ocular abnormalities are the characteristic features of the disease. They include cataracts, corneal opacification, bluish discoloration of sclera, myopia, and strabismus.
  • The affected child may also present neurological deficits of variable degrees, including intellectual bluntness, hyperreflexia, seizures, low writing movements, and athetoid-like movements.

Ocular abnormalities,Neurological deficits,Stunted growth,Skeletomuscular malformations,Growth delay,Premature aging of skin,Abnormal facial features
Autosomal recessive cutis laxa

What are the causes for de barsy syndrome?

Some cases of de Barsy syndrome are caused by mutations in either the PYCR1 or ALDH18A1 genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. Some individuals with de Barsy syndrome do not have mutations in either of these genes suggesting that as-yet-unidentified genes cause the disorder.

De Barsy syndrome is inherited as an autosomal recessive disorder. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

Investigators have determined that the PYCR1 gene is located on the long arm of chromosome 17 (17q25.3) and that the ALDH18A1 gene is located on the long arm of chromosome 10 (10q24.1). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 17q25.3” refers to band 25.3 on the long arm of chromosome 17. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

What are the treatments for de barsy syndrome?

The treatment of de Barsy syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, dermatologists, orthopedists, neurologists, ophthalmologists, and other healthcare professionals may need to systematically and comprehensively plan an affect child’s treatment. Genetic counseling may be of benefit for affected individuals and their families. Psychosocial support for the entire family is essential as well.

There are no standardized treatment protocols or guidelines for affected individuals. Due to the rarity of the disease, there are no treatment trials that have been tested on a large group of patients. Various treatments have been reported in the medical literature as part of single case reports or small series of patients. Treatment trials would be very helpful to determine the long-term safety and effectiveness of specific medications and treatments for individuals with de Barsy syndrome.

Specific therapies for individuals with cutis laxa can include surgery to repair skeletal problems, ocular abnormalities, or hernias. Some individuals elect for plastic (cosmetic) surgery to improve skin symptoms. Results are typically good, but loose, lax skin often recurs.

Individuals with ALDH18A1-related de Barsy syndrome who present with hyperammonemia and low arginine, ornithine and citrulline levels should be treated by drugs known as ammonia scavengers as well as supplementation with citrulline or arginine.

Early developmental intervention is important to ensure that affected children reach their potential. Physiotherapy may be useful to help prevent contractures. Additional medical, social and/or vocational services including special remedial education may be necessary.

Affected individuals should avoid environmental triggers that can worsen cutis laxa or associated symptoms. For example, sunbathing can damage the skin and should be avoided.

What are the risk factors for de barsy syndrome?

De brassy syndrome is a rare genetic disorder. Hitherto, only 27 cases have been reported worldwide. The pattern of inheritance of the disease is autosomal recessive. Nevertheless, the gene mutations that cause the disease are yet to be discovered.

  • The condition affects the skin, eyes, musculoskeletal and nervous system.
  • The disease exhibits skin manifestations similar to that of cutis laxa disorder.
  • Hence, another name for the disease is corneal clouding-cutis laxa-mental retardation.
  • The environmental or epigenetic factors that pose risks to the disease or its progression have not yet been defined.
  • The disease has been hypothesized to be inherited in an autosomal recessive manner.
  • The only risks known are genetic. Therefore, the possibility of incidence can be reduced by genetic counseling.
  • In autosomal recessive diseases, when a mutant is present in a homozygous state, the carrier presents weak or mild signs and symptoms. It should be taken as a cue, and the parents should opt for genetic counseling.
  • When both the parents are carriers of the mutants, there is a 50 percent probability that a child born is affected.
  • When a single parent is a carrier, there is no risk of a child being affected; one in four children born will be a carrier.

Ocular abnormalities,Neurological deficits,Stunted growth,Skeletomuscular malformations,Growth delay,Premature aging of skin,Abnormal facial features
Autosomal recessive cutis laxa

Is there a cure/medications for de barsy syndrome?

De Barsy syndrome is a rare genetic disorder that affects the body's connective tissue. It is distinguished by short stature, developmental delays, and lax cutis (saggy skin that lacks elasticity). The syndrome is named after Dr. Georges de Barsy, who described the condition for the first time in 1931. It usually affects men and women equally. The severity and specific symptoms of De Barsy syndrome vary from person to person.

  • Because of the genetic nature of the condition caused by one or more genes not working properly, researchers and doctors believe some cases are caused by mutations in the PYCR1 or ALDH18A1 genes.
  • The gene mutation is passed down through families as an autosomal recessive trait.
  • The exact cause of De Barsy syndrome is unknown, and there is no standardized treatment.
  • The treatment focuses on managing the signs and symptoms, which can help the patient's quality of life.
  • De Barsy syndrome is typically treated symptomatically with physical therapy to enhance joint mobility and muscle strength.
  • Surgery to correct eye and skeletal abnormalities. Some patients prefer cosmetic surgery to repair cutis laxa, but there is a high risk of recurrence.
  • Avoiding activities that may aggravate or worsen the skin condition (e.g., sunbathing)

Ocular abnormalities,Neurological deficits,Stunted growth,Skeletomuscular malformations,Growth delay,Premature aging of skin,Abnormal facial features
Autosomal recessive cutis laxa

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