Dubowitz syndrome is a rare hereditary disease associated with symptoms such as short stature and facial malformations. The disease was named after the British child neurologist Victor Dubowitz.

What is Dubowitz syndrome?

In some cases hypoplasia of the pituitary gland also occurs. As a result, hormone formation in the pituitary gland may be impaired.
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Victor Dubowitz first described Dubowitz syndrome in 1965. The disease is an autosomal recessive hereditary disease [[which is a rare occurrence. Currently, only 150 cases are known worldwide. Thus, the Dubowitz syndrome belongs to the so-called orphan diseases. Orphan Diseases are diseases that are so rare that they appear in a normal doctor's office at most once a year. Dubowitz Syndrome is associated with many different symptoms.

However, according to the observations of Masato Sukahara and John M. Opitz, not all symptoms must be present. The scientists found that facial malformations are the most important diagnostic sign of Dubowitz syndrome. In 112 out of 141 cases, these occurred. It is striking that despite the marked microcephaly in many sufferers severe mental disabilities occur only rarely. Most patients with Dubowitz syndrome develop cognitively normal.

causes

The genesis of Dubowitz syndrome is still unclear. However, it is thought that the disease is inherited through autosomal recessive inheritance. In autosomal recessive inheritance, the defective allele is located on both homologous autosomes. The disease is thus inherited regardless of gender. In the case of autosomal recessive inheritance, both parents are usually healthy and heterozygous.

Heterozygous means that the genome of a cell has two different gene copies on both autosomes and chromosomes. The child can only get sick if both parents are carriers of the defective gene. Carriers of the defective allele are referred to as conductors. The statistical probability that the child of two conductors gets the disease is 25 percent.

If one parent is ill and the other parent is the carrier, the risk increases to 50 percent. How the symptoms of Dubowitz syndrome develop is also unknown.

Symptoms, complaints & signs

The disease can manifest in the form of various symptoms. A key symptom is the physical retardation. Those affected often suffer from short stature. Short stature refers to non-standard body length growth. In addition to reduced growth, microcephaly often occurs. In microcephaly, the head is small in size.

It is three standard deviations less than the mean for people of the same age and sex. Microcephaly is actually more associated with intellectual disabilities. In Dubowitz syndrome, the disabilities are only mild to moderate. Half of all patients have no cognitive limitations and develop properly.

Some patients suffer from eczema associated with itching and redness. Also typical for the Dubowitz syndrome is hyperactivity. This is characterized by abnormal mental hyper excitability. Those affected suffer from motor restlessness and have difficulty concentrating.

Most patients with Dubowitz syndrome have facial malformations called craniofacial dysmorphisms. These include, for example, a reduced eyelid column (blepharophimosis), a missing nasal saddle, a too large eye relief or a depression of the ears. Likewise, malformations of the eyes and malformations of the teeth can occur. Malformations of the digestive tract can develop symptoms such as heartburn or constipation.

Some patients develop congenital constipation due to anal stenosis. In addition, in Dubowitz syndrome malformations of the central nervous system can occur. Typical is an aplasia of the corpus callosum. This structure is a fiber connection that runs between the two halves of the brain. The corpus callosum ensures that information can be exchanged between the two halves of the brain. In some cases hypoplasia of the pituitary gland also occurs.

As a result, hormone formation in the pituitary gland may be impaired. There are several malformations of the musculoskeletal system that can be caused by the Dubowitz syndrome. On the fingers can show nail hypoplasia or shortening of individual fingers. Also on the feet nail plasmas or nail hypoplasias are possible. It also leads to adhesions of adjacent fingers or toes.

Patients with Dubowitz syndrome often suffer from dysplasia of the hip. In some cases, a so-called Coxa valga was observed. In this axial misalignment of the femoral neck is a steep position. The joints of patients with Dubowitz syndrome are often over-mobile. Some sick children are born with spina bifida or scoliosis. Spina bifida is a spinal embryonic obstruction of the spine.

It is popularly known as the open back. In scoliosis, the spine deviates laterally from the longitudinal axis. Patients with Dubowitz syndrome are more likely to suffer from infections such as otitis media, pneumonia, sinusitis, whooping cough, or brain inflammation. Also neurological symptoms such as migraine, cramps, bladder and anus paralysis or disturbed reflexes may occur.

diagnosis

The diagnosis is made after a detailed clinical examination. Evidence of the disease provide the facial malformations and dwarfism. A special molecular genetic or cytogenetic diagnosis is not yet available for Dubowitz syndrome.

complications

Due to the Dubowitz syndrome, patients are affected by a variety of malformations that can develop throughout the body. In most cases it comes to short stature. In addition to the smaller body size and the head of the patient is much smaller than usual. Often there are also complaints on the skin.

This can develop redness and itching. The intelligence and cognitive abilities are not limited, so the patient can develop in a habitual manner. Malformations of the stomach or digestive tract can cause heartburn. It is not uncommon for adhesions of fingers and toes to occur as well.

Likewise, it often leads to infections that can affect the lungs or the nose. In severe cases, inflammation also occurs in the brain. The malformations can cause an uncertainty and self-doubt in those affected, resulting in mental discomfort. Children are teased and bullied because of their deformities.

A causal treatment of Dubowitz syndrome is not possible, which is why only the symptoms are alleviated. The person concerned must carry out various examinations in order to diagnose tumors and remove them if necessary. As a rule, life expectancy is not reduced.

When should you go to the doctor?

Dubowitz syndrome is usually diagnosed immediately after birth. The doctor can detect the disease on the basis of the short stature and the typical facial malformations and promptly arrange a treatment. If a parent is ill, a medical examination should be performed before birth. It can then be decided together with the doctor on how to proceed. If the sufferers suffer from eczema, itching and redness, a dermatologist may be consulted.

The often occurring hyperactivity helps a therapist. Parents who notice appropriate behavioral problems with their child should also speak with a specialist in the condition. This can give further tips and assistance and refer the affected person to a special clinic if necessary.

In severe complications such as lung, brain or sinusitis the emergency doctor should be called. Since the Dubowitz syndrome can take many forms, a comprehensive collaboration with a team of doctors is necessary. These should be informed about all complaints and abnormalities so that said complications do not even arise.

Treatment & Therapy

Dubowitz syndrome can not be treated causally. Possible malformations may possibly be surgically corrected. Growth, overall health status, language development, dental status and cognitive development should be monitored periodically by a physician. As malignant neoplasms frequently accumulate due to immune deficiencies in the context of the disease, a regular targeted search for tumors is required.

Outlook & Forecast

As a rule, the Dubowitz syndrome can not be treated causally because it is a genetic disease. The affected persons are therefore dependent on a purely symptomatic treatment, which can restrict the malformations and thereby increase the quality of life. Self-healing does not occur in this syndrome.

If no treatment of Dubowitz syndrome take place, sufferers often suffer from strong itching or heartburn. It can also lead to hyperactivity or disorders of development in children, which also makes everyday life in adulthood much more difficult. Furthermore, the patients increasingly suffer from various inflammations and can die in the worst case, if they are not treated. Also, paralysis and limitation of reflexes are common in this syndrome.

The treatment itself can only limit the symptoms, with a focus on the child's normal development. Furthermore, those affected depend on regular examinations to detect and treat tumors at an early stage. In most cases, the life expectancy of the patient is reduced by the syndrome. The syndrome can lead not only to those affected, but also to relatives and parents to severe mental disorders or depression.

prevention

Dubowitz syndrome can not be prevented.

aftercare

In the case of Dubowitz syndrome, the person concerned has in most cases very few measures of follow-up care available. First and foremost, the disease should be detected early, so that it does not lead to a further deterioration of the complaints, which can limit the life of the person concerned. Since this is a genetic disease, it can not be completely cured, so that only a purely symptomatic treatment can occur.

If a patient wishes to conceive in the later stages of life, a genetic examination may be performed followed by counseling to prevent the inheritance of Dubowitz syndrome to the offspring. In most cases, the affected children will need intensive and special support from the syndrome, so that they will not develop symptoms during development.

Parents can significantly promote this development with different exercises. Since the syndrome can promote the occurrence of tumors, regular examinations by a doctor are very useful. In many cases, patients also rely on the support of friends and family in their everyday lives.

You can do that yourself

Dubowitz syndrome is a very rare hereditary disease, characterized in particular by stunted growth and malformations of the face. The disease can not be treated causally. The patient himself can only take measures to relieve the symptoms.

The short stature is often accompanied by a limitation of motor skills. Patients should start physiotherapy as early as possible to improve their mobility. If it becomes apparent that a child will later depend on assistants, parents should encourage their use early on.

Children who have Dubowitz syndrome usually have no or only mild forms of mental retardation. But they are very often hyperactive. In addition, you are inhibited by the short stature in their development. Parents should therefore attract early experts to ensure optimal educational and psychological support for their child. It should also be searched in time for a suitable school.

The cognitive abilities of children usually allow participation in regular classes. Many schools, however, are unable to adequately care for students with significant physical retardation. This is particularly true because those affected are often teased or even bullied because of their facial malformations of peers and the teachers usually do not have the necessary socio-educational training to cope with such situations.

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