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Learn About Dubowitz Syndrome

What is the definition of Dubowitz Syndrome?
Dubowitz syndrome is a very rare genetic and developmental disorder with a broad range of signs and symptoms. The typical findings of Dubowitz syndrome include growth failure/short stature, characteristic facial features such as a small triangular face, high sloping forehead, drooping eyelid (ptosis), short eyelids, increased distance between eyes (hypertelorism) broad and flat nasal bridge with a prominent and rounded nasal tip, smaller than normal head (microcephaly), intellectual disability, and eczema, especially on the face and behind the knees. Other common findings are behavioral disorders (hyperactivity, and/or autistic features), speech alterations, scanty or absent hair, foot abnormalities, delayed bone age, bone defects of the lower part of the spine (sacrum and coccyx), testicles that are still not located in the scrotum (cryptorchidism), memory and / or learning problems. There may be an increased risk of having cancer such as leukemia, or lymphoma. The diagnosis is made based on the symptoms (specially the facial features), but there is no specific laboratory test. The cause is still unknown, but, some people who are diagnosed with the syndrome may have variants in the NSUN2 and LIG4 genes, or have loss or gain of microscopic material in some chromosomes (chromosomal microdeletions or microduplications).
What are the alternative names for Dubowitz Syndrome?
  • Dubowitz syndrome
  • Dwarfism-eczema-peculiar facies syndrome
  • Intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci
Who are the top Dubowitz Syndrome Local Doctors?
Elite in Dubowitz Syndrome
Elite in Dubowitz Syndrome
Calgary, AB, CA 

Allan Innes practices in Calgary, Canada. Mr. Innes is rated as an Elite expert by MediFind in the treatment of Dubowitz Syndrome. His top areas of expertise are Dubowitz Syndrome, SHORT Syndrome, Increased Head Circumference, and Hypotonia.

Khyati V. Kadia
Advanced in Dubowitz Syndrome
Family Medicine
Advanced in Dubowitz Syndrome
Family Medicine

UPMC Primary Care

501 Howard Avenue, 
Altoona, PA 
Languages Spoken:
English, Gujarati , Hindi
Offers Telehealth

Khyati Kadia, MD, specializes in family medicine and is certified by the American Board of Family Medicine. She practices at Altoona Family Physicians and is affiliated with UPMC Altoona. She completed her residency at University of Illinois College of Medicine at Rockford and medical degree at Windsor University School of Medicine. Dr. Kadia is rated as an Advanced provider by MediFind in the treatment of Dubowitz Syndrome. Her top areas of expertise are Kenny-Caffey Syndrome Type 2, Campomelic Dysplasia, Winchester Syndrome, and Russell-Silver Dwarfism.

 
 
 
 
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Experienced in Dubowitz Syndrome
Cardiology | Advanced Heart Failure and Transplant Cardiology
Experienced in Dubowitz Syndrome
Cardiology | Advanced Heart Failure and Transplant Cardiology

Seton Family Of Doctors

11111 Research Blvd, Suite 300, 
Austin, TX 
Languages Spoken:
English, Spanish
Accepting New Patients
Offers Telehealth

Mary Cishek is a Cardiologist and an Advanced Heart Failure and Transplant Cardiologist in Austin, Texas. Dr. Cishek is rated as an Experienced provider by MediFind in the treatment of Dubowitz Syndrome. Her top areas of expertise are Cardiomyopathy, Dilated Cardiomyopathy (DCM), Heart Failure, Heart Transplant, and Patent Foramen Ovale Repair. Dr. Cishek is currently accepting new patients.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center