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Dubowitz Syndrome - Causes, Symptoms, and Treatment

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Dubowitz syndrome is a rare inherited condition characterized by growth retardation, weird faces, short stature, and mental retardation. Read more for details.

Written by

Dr. Sameeha M S

Medically reviewed by

Dr. Kaushal Bhavsar

Published At February 1, 2023
Reviewed AtFebruary 12, 2024

Introduction

Dubowitz syndrome (DS) is a rare genetically inherited disorder identified 40 years ago by Victor Dubowitz and reported in nearly 150 to 200 people. The affected individuals with Dubowitz syndrome show characteristic facial features, growth retardation, short stature, microcephaly, skin eruptions, and mental retardation. Children with Dubowitz syndrome show similar behavioral features like short attention spans, aggressiveness, shyness, and hyperactivity. Dubowitz syndrome leads to decreased language and motor functioning, delayed development, and increased risk of a short life span.

What Is Dubowitz Syndrome?

Dubowitz syndrome (DS) is a rare autosomal recessive inherited condition first reported in 1965 by Dr. Victor Dubowitz. It can be diagnosed based on specific symptoms and features. The characteristic features of Dubowitz syndrome include a small head, slow growth, frequent infections, intellectual disability, and specific facial features. The affected individuals with Dubowitz syndrome have specific facial features like a triangle or narrow-shaped face, sloping forehead, droopy and narrow eyes, underdeveloped bones around the eyes, and sparse eyebrows and hair. In some people with Dubowitz syndrome, multisystem complications involving the heart, digestive system, muscles, and nerves are also seen. Increased risk of developing lymph node cancer (lymphoma) and blood cancer (leukemia) are also reported with Dubowitz syndrome.

What Is the Prevalence of Dubowitz Syndrome?

This syndrome impacts both men and women identically. Around the world, the illness has been identified in a wide range of groups. No particular racial or geographic location is associated with this condition. Some other family members of the affected individual may also have this syndrome.

What Are the Causes of Dubowitz Syndrome?

The exact cause of Dubowitz syndrome (DS) is not known. Studies suggest that Dubowitz syndrome is inherited in an autosomal recessive manner. Thus, two copies of the mutated gene from both parents are to transfer Dubowitz syndrome to offspring.

What Are the Symptoms Associated With Dubowitz Syndrome?

Most of the affected individuals with Dubowitz syndrome have some similar symptoms. Almost most of them have a retarded growth and short stature. The most common symptoms include microcephaly, intellectual disability, micrognathia, recurrent infections, skin irritations, and specific facial features (narrow face and sloping forehead). These features can also be seen before birth during an ultrasound scan.

1. Facial Features - Patients with Dubowitz syndrome have specific facial features that distinguish them from other similar disorders. They are:

  • Narrow face.

  • Sloping forehead.

  • Shallow supraorbital ridge.

  • Micrognathia.

  • Thin hairs.

  • Sparse eyebrows.

  • Facial asymmetry.

  • Abnormal neck.

  • Prominent ears.

  • Flat nasal bridge.

  • Drooping eyelids.

  • Abnormal palpebral fissures.

  • Telecanthus.

  • Small eyes.

  • Narrow and high-arched palate.

2. Growth Retardation - It occurs both pre- and post-birth. Intrauterine growth retardation is seen in nearly 56 percent of cases. The physical development of children with Dubowitz syndrome is months to years behind the child's actual development. Other developmental defects include short stature, small-sized head, low weight, and intellectual delay.

3. Eye Defects - Several malformations of the eyes are associated with Dubowitz syndrome. They are:

  • Drooped upper eyelids.

  • Excessive epicanthic folds.

  • Abnormal palpebral fissures.

  • Telecanthus.

  • Hypertelorism.

  • Small eyes.

  • Microphthalmia.

  • Megalocornea.

  • Strabismus.

  • Cataracts.

  • Retinal degeneration.

  • Iris coloboma.

  • Nystagmus.

  • Iris hypoplasia.

  • Astigmatism.

  • Diplopia.

  • Paresis.

  • Hyperopia.

4. Behavioral Characteristics - Behavioral features involving temperament, speech, and overall behavior are associated with Dubowitz syndrome. Voice disorders like hoarse voices or high-pitched sounds are seen. Other behavioral characteristics of Dubowitz syndrome include hyperactivity, learning difficulties, aggressiveness, agitation, irritability, frequent temper tantrums, moodiness, and poor compliance.

5. Medical Difficulties - Multiple organ involvement and complications are also seen in Dubowitz syndrome. It includes skin defects, immune system defects, cardiovascular diseases, neurological problems, and gastrointestinal disorders.

6. Dental Defects - Dental manifestations like irregular teeth, teeth crowding, delayed eruption, missing teeth, and malalignment are seen in Dubowitz syndrome.

7. Bone Defects - Retarded bone maturation, decreased muscle tone, muscle weakness, and hypotonia are seen in Dubowiz syndrome. In some people, joint defects, scoliosis, clubfoot, and syndactyly are also seen.

How Is Dubowitz Syndrome Diagnosed?

The diagnosis of Dubowitz syndrome can be made based on the previous medical history, growth records, and facial appearance. Sometimes, genetic testing can also diagnose the gene defects associated with Dubowitz syndrome. The main clinical features for diagnosing Dubowitz syndrome are a small head, short stature, delayed growth, intellectual disabilities, specific facial features, and eczema. Clinical features involving ears, eyes, skin, teeth, and skeletal system are evaluated for diagnosis.

What Are the Treatment Options for Dubowitz Syndrome?

The treatment options for Dubowitz syndrome depend on the symptoms and associated complications that people have. Based on the clinical symptoms and the associated treatment methodologies, the treatment options for Dubowitz syndrome can be of the following types.

  • Behavioral Management - It involves the management of specific behavioral characteristics associated with Dubowitz syndromes, like hyperactivity, behavior problems, sleep disturbance, fear of crowds, and irritability. Thus, different reinforcement techniques can be used to manage these behavioral problems.

  • Medical Management - Medication and surgery to manage complications. Surgeries can correct abnormal features on the hands, face, and feet. Contact lenses or power glasses are given to correct vision problems in Dubowitz syndrome. Other medical interventions include blood transfusions, medications, transplants, and growth hormone treatments.

  • Language and Cognitive Treatment - Children with Dubowitz syndrome usually have retarded mental development and intellectual disability. Specialized care is given to such children to assist their learning and mental development. Speech therapy is also done to improve speech defects and language deficits. Reinforcement schedules, roll play, and social play can be used to develop self-help skills and social skills in the affected children.

What Are the Future Directions for This Condition?

Future investigations should give importance to cognitive, behavioral, and psychological assessment of the individuals affected with Dubowitz syndrome. Focusing on these aspects helps researchers to better understand the nature of the illness. A better understanding of the illness helps in the best treatment approach. Kids with this condition may behave differently from their classmates. Evaluating the impact of the disease on one’s self-esteem and social interaction is essential.

Conclusion

Dubowitz syndrome is a rare inherited condition with characteristic facial defects, growth retardation, and intellectual delay. People with Dubowitz syndrome have microcephaly, growth retardation, eczema, genital abnormalities, intellectual deficit, and distinctive facial dysmorphism. A sloping forehead, triangle-shaped head, short palpebral fissures, flat nasal bridge, ptosis, flat supraorbital ridge, and unusual mouth configurations characterize the facial appearance of Dubowitz syndrome-affected individuals.

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Dr. Kaushal Bhavsar
Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)

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