About de barsy-moens-diercks syndrome

What is de barsy-moens-diercks 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-moens-diercks syndrome?

T symptom was found in the de barsy-moens-diercks syndrome condition

Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about de Barsy syndrome is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.

An extremely wide and varied group of symptoms have been reported in individuals with de Barsy syndrome. The prematurely-aged appearance that commonly affects children with de Barsy syndrome is caused by underdevelopment of the skin and structures in the middle of the face (midface hypoplasia). Loose, sagging, inelastic skin that characterizes cutis laxa contributes to the prematurely-aged appearance. Less often, the skin may be thin and appear translucent so the underlying veins may be easily visible. In some cases, affected individuals may have reduced subcutaneous fat, which is the layer of fat just below the skin’s surface.

Infants with de Barsy syndrome may also have Distinctive facial features including an unusually prominent forehead (frontal bossing), thin lips, widely spaced eyes (hypertelorism), a small, upturned nose, and large, malformed (dysplastic) ears. Some affected infants may experience delayed closure of the soft spot on top of the skull (delayed closure of the anterior fontanel). The anterior fontanel may be abnormally large as well. In some cases, the circumference of an infant’s or child’s head may be smaller than would be expected based upon age and gender (microcephaly).

Affected infants may also have Diminished muscle tone (hypotonia) and joints that are abnormally loose (hypermobility) because of lax ligaments and tendons. Skeletal abnormalities may occur including frequent dislocations and partial dislocations (subluxations) including congenital dislocation of the hip, and hands that are stuck in a clenched position (contracture) with thumbs that turned inward (adducted thumbs). A sunken breastbone known as pectus excavatum, low bone mineral density, and weakened, fragile bones (osteoporosis) have also been reported.

Ocular abnormalities are also common in de Barsy syndrome and may include clouding of the lenses of the eyes (cataracts) and clouding of the corneas of the eyes (bilateral corneal opacification). The cornea is the clear (transparent) outer layer of the eye that helps let light in. Corneal opacification may not cause any symptoms or it can lead to varying degrees of vision loss. Less common ocular abnormalities include bluish discoloration of the whites of the eyes (blue sclera), nearsightedness (myopia), and eyes that do not line up in the same direction such as crossed-eyes (strabismus).

Varying degrees of Intellectual disability may also occur, ranging from moderate to severe. Affected infants and children may experience delays in attaining developmental milestones (developmental delays) and have reflex responses that are stronger than normal (hyperreflexia). As affected individuals grow older they may develop Seizures and involuntary, slow, writhing movements (athetoid-like movements) of the hands, feet, arms and legs.

Growth delays occur before birth and after birth (intrauterine and postnatal growth deficiency). In addition, affected infants may fail to grow and gain weight at the expected rate for age and gender (failure to thrive). Individuals with de Barsy syndrome may display height that is below what would normally be expected based upon age and gender (short stature).

Additional symptoms have been reported in some cases including inguinal and umbilical hernias.

What are the causes for de barsy-moens-diercks 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-moens-diercks 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-moens-diercks syndrome?

De Barsy Moens-Diercks 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 Moens-Diercks 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 Moens-Diercks 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 Moens-Diercks 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)


Symptoms
Abnormal growth of the skull and facial bones,Defects in the eyes (clouding of cornea), heart, and skeleton,Decreased muscle tone (Hypotonia)
Conditions
Cutis laxa (loose, saggy, and inelastic skin),Vision loss,Stunted growth
Drugs
NA

Is there a cure/medications for de barsy-moens-diercks syndrome?

De Barsy Moens-Diercks syndrome is a rare genetic disorder that affects the body's connective tissue.

  • 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.
  • Treatments focus on managing the signs and symptoms, which can help the patient's quality of life.
  • De Barsy Moens-Diercks 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)
  • Individuals with ALDH18A1-related de Barsy syndrome should be treated by drugs known as ammonia scavengers as well as supplementation with citrulline or arginine.
  • Early intervention is needed 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.


Symptoms
Abnormal growth of the skull and facial bones,Defects in the eyes (clouding of cornea), heart, and skeleton,Decreased muscle tone (Hypotonia)
Conditions
Cutis laxa (loose, saggy, and inelastic skin),Vision loss,Stunted growth
Drugs
NA

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