About dubowitz syndrome

What is dubowitz syndrome?

Dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small head (microencephaly); (4) mild (usually) mental retardation; and (5), in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Symptoms may be detected while the fetus is still in the uterus (intrauterine) as well as immediately after birth (neonatal).

Facial appearance is a key to the diagnosis, with characteristic high or sloping forehead; sparse hair; flat, undeveloped (hypoplastic) bones above the eyes (supraorbital ridges); increased distance between the eyes (ocular hypertelorism); drooping eyelids (ptosis); sparse (hypoplastic) lateral eyebrows; very small lower jaw (micrognathia) and receding chin (retrognathia). Affected children are often hyperactive, stubborn and shy.

What are the symptoms for dubowitz syndrome?

Abnormal facial features symptom was found in the dubowitz syndrome condition

While there are some differences in the types and severity of symptoms that a person can have, people with Dubowitz syndrome share a few common symptoms. Almost everyone has Short stature and slow growth. This can be seen before birth in an ultrasound. It can also be seen after birth. People usually have a Small head (microcephaly), with a small jaw (micrognathia). They also have mild to moderate intellectual disability. People with Dubowitz syndrome have allergies and get infections easily. About half have Eczema (rough, red, itchy patches of skin). The best way to diagnose Dubowitz syndrome is through the facial features. People have a narrow or triangle-shaped face with a high or sloping forehead. The bones around their eyes haven’t fully formed (hypoplastic supraorbital ridges) and their eyes are far apart (hypertelorism). They tend to have droopy eyes (ptosis) that make the eyes look wide and narrow (blepharophimosis). Their ears are large, not fully formed, and set low on their head. Affected individuals also tend to have sparse hair and eyebrows. The roof of their mouth tends to be higher than normal (arched palate), and they may have cleft lip/palate. Hearing problems have not been reported, but Vision problems such as problems seeing things up close (farsightedness) and Cataracts (clouding of the eye lens) have been reported.

People with Dubowitz syndrome can have problems with their nerves, which makes their muscles weak and difficult to move properly (hypotonia). There can also be problems with the skeleton, like curved pinky fingers or toes (clinodactyly). Sometimes two toes can be fused together (syndactyly). Other skeletal problems include scoliosis, and poorly formed or missing ribs. Sometimes parts of the spine (vertebra) will be fused together, making it difficult to move. Many people with Dubowitz syndrome have problems with their immune system and have allergies and frequently get infections. The immune system problems are caused by anemia, which is when there are not enough white (and red) blood cells in the blood to fight infections. Some people have poorly formed reproductive organs (genitalia), like the penis, testes, vagina, and clitoris. In men, the testes sometimes do not descend (cryptorchidism), and the urethra may open underneath the penis instead of at the tip (hypospadias). People with this condition may also have poorly formed digestive systems, lungs, and heart. Their voice tends to be high pitched and hoarse.

It is not possible to predict the level of intellectual disability; however, it is possible for someone to have normal intelligence. Severe Intellectual disability is rare in this condition. Children with Dubowitz syndrome may learn self-help skills later than other children of the same age, such as dressing, eating, and going to the bathroom. They may also have delays in speech development. They may have difficulty learning in school and may have to stay behind a few grades. They may also have behavior problems, like being constantly active and disruptive (hyperactivity). They may have problems focusing and throw temper tantrums. Many children are diagnosed with ADHD. Children may also have problems sleeping and eating. It is important that children with Dubowitz syndrome eat because they are already growing slowly and they need the nutrition to grow.

Dubowitz syndrome increases the chances of having specific cancers. The exact cancer risk is not known. Blood cancers like leukemia, and lymph node cancers (lymphomas) are common. People can also get cancers like nerve cell cancer (neuroblastoma), muscle cancer (myosarcoma), and sarcomas (soft tissue/ bone cancers).

What are the causes for dubowitz syndrome?

The cause of Dubowitz syndrome is not known. Some affected individuals have changes (mutations) in the NSUN4 and LIG4 genes, while others have had small additions or deletions of DNA (microduplications/ microdeletions).

Research suggests that this condition can be passed through family in an autosomal recessive manner. We each inherit two copies of all our genes, one from our mom and one from our dad. Sometimes genes have mutations that stop them from work properly. If both copies of a specific gene don’t work properly, the person has a specific autosomal recessive genetic condition. If an individual has one normal gene and one non-working gene, the person will be a carrier for the condition, but usually will not show symptoms. The chance of two carrier parents having an affected child is 25% with each pregnancy. The chance of having a child who is also a carrier is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

What are the treatments for dubowitz syndrome?

Treatment for Dubowitz syndrome depends on the symptoms that people have. Eczema can be difficult to treat because half of the people find that corticosteroid cream (which is often used to treat eczema) doesn’t work for them. The dermatologist can help determine what works best to treat eczema. Glasses or contact lenses help with vision problems. Cataracts (clouding of the lens) in the eye must be removed surgically. Surgery can also correct many skeletal problems, especially with the fingers, hands, and feet. Some facial features can also be corrected with surgery, such as the cleft palate and droopy eyes. In some people, taking extra growth hormone helped to speed up growth. If cancer is present, the type of cancer treatment depends on which type of cancer the person has.

While there is no treatment for intellectual disabilities, a few things can help. Children do better when they have frequent sessions of speech therapy and special help or tutoring with school subjects. Occupational therapy or physical therapy may also help teach children self-help skills. Behavioral problems, like ADHD, refusal to eat, or temper tantrums, can be treated with medication or with behavioral therapy.

What are the risk factors for dubowitz syndrome?

It is unknown what causes Dubowitz syndrome. While some affected people have minor DNA additions or deletions (microduplications/microdeletions), others have changes (mutations) in the NSUN4 and LIG4 genes.

1. According to research, this disorder may run in families and be autosomal recessive. All of our genes come in two copies each of us, one from our mother and one from our father.
2. Mutations in genes can occasionally prevent them from functioning normally.
3. An individual has a specific autosomal recessive genetic disorder if both copies of a particular gene are defective.
4. An individual will be a carrier of the illness if they have one functioning gene and one non-functioning gene, although they often won't experience any symptoms.
5. With each pregnancy, there is a 25% risk that a kid of two carriers will be harmed. With every pregnancy, there is a 50% chance of producing a carrier child.
6. A child has a 25% chance of inheriting normal genes from both parents. Both men and women are at the same level of danger.
7. Dubowitz syndrome sufferers can occasionally have cancer, especially when it affects their lymph nodes or blood (leukemia) (lymphoma).
8. Cancer risk is not precisely known. People who have this illness may exhibit aggressive behavior, trouble falling asleep or staying asleep, and ADHD (attention-deficit/hyperactivity disorder).

Small head,Droopy eyes,Unusual facial features

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