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Dubowitz Syndrome

Last updated April 18, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Dubowitz Syndrome is a very rare genetic and developmental disorder with a range of signs and symptoms, including, growth failure/short stature, characteristic facial features (such as a small triangular face, high sloping forehead, drooping eyelid, short distance between the inner and outer corner of the eye, broad and flat nasal bridge), microcephaly, intellectual disability, and eczema.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Dwarfism-Eczema-Peculiar Facies Syndrome
  • Intrauterine Growth Retardation, Short Stature, Microcephaly, Mild Mental Retardation with Behavior Problems, Eczema, and Unusual and Distinctive Faci

What is Dubowitz Syndrome? (Definition/Background Information)

  • Dubowitz Syndrome is a very rare genetic and developmental disorder with a range of signs and symptoms
  • The findings of Dubowitz Syndrome typically include: Growth failure/short stature; characteristic facial features such as a small triangular face, high sloping forehead, drooping eyelid (ptosis), short palpebral fissures (short distance between the inner and outer corner of the eye), broad and flat nasal bridge, smaller than normal head (microcephaly), intellectual disability, and eczema
  • Although the exact genetic cause of Dubowitz Syndrome has not been identified, the condition is believed to be inherited in an autosomal recessive fashion based on studies of families affected by the syndrome
  • Although there is no specific treatment or cure for Dubowitz Syndrome, there are ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person

(Source: Dubowitz Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Dubowitz Syndrome? (Age and Sex Distribution)

  • Dubowitz Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Dubowitz Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Dubowitz Syndrome is an inherited condition
  • Currently, no other risk factors have been clearly identified for Dubowitz Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Dubowitz Syndrome? (Etiology)

  • Although the exact genetic cause of Dubowitz Syndrome has not been identified, the condition is believed to be inherited in an autosomal recessive fashion based on studies of families affected by the syndrome

(Source: Dubowitz Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Dubowitz Syndrome?

The signs and symptoms of Dubowitz Syndrome may include:

  • Agenesis of permanent teeth
  • Aplastic anemia
  • Broad nasal tip
  • Carious teeth
  • Delayed speech and language development
  • Episodic vomiting
  • Facial asymmetry
  • Feeding difficulties in infancy
  • Gastroesophageal reflux
  • Generalized hypotonia
  • High forehead
  • High pitched voice
  • Hyperactivity
  • Hypermetropia
  • Hypoplasia of the iris
  • IgA deficiency
  • IgG deficiency
  • Inguinal hernia
  • Iris coloboma
  • Low-set ears
  • Megalocornea
  • Microphthalmia
  • Neuroblastoma
  • Otitis media
  • Pes planus
  • Short attention span
  • Short palpebral fissure
  • Small face
  • Tapetoretinal degeneration
  • Velopharyngeal insufficiency
  • Wide nasal bridge

Based on the frequency of symptoms observed, the following information may be noted:

Very frequently present symptoms in 80-99% of the cases:

  • Aplasia/hypoplasia of the thumb
  • Broad thumb
  • Hypertelorism
  • Intellectual disability
  • Intrauterine growth retardation
  • Microcephaly
  • Telecanthus
  • Underdeveloped supraorbital ridges

Frequently present symptoms in 30-79% of the cases:

  • Abnormality of female external genitalia 
  • Abnormality of the antihelix 
  • Attention deficit hyperactivity disorder 
  • Blepharophimosis 
  • Clinodactyly of the 5th finger
  • Cryptorchidism 
  • Delayed cranial suture closure
  • Delayed skeletal maturation 
  • Eczema 
  • Epicanthus
  • Fine hair
  • Hearing impairment 
  • Hypospadias
  • Low anterior hairline
  • Low-set, posteriorly rotated ears 
  • Micrognathia 
  • Narrow face 
  • Postnatal growth retardation
  • Protruding ear 
  • Ptosis 
  • Recurrent infections 
  • Respiratory insufficiency 
  • Sandal gap 
  • Short foot
  • Sloping forehead 
  • Small hand 
  • Sparse lateral eyebrow
  • Sparse scalp hair 
  • Submucous cleft hard palate 
  • Wide anterior fontanel

Occasionally present symptoms in 5-29% of the cases:

  • Abnormality of cardiovascular system morphology
  • Abnormality of neutrophils
  • Abnormality of skin pigmentation
  • Abnormality of the fingernails 
  • Acute lymphoblastic leukemia 
  • Anal stenosis 
  • Anemia 
  • Aplasia/hypoplasia of the corpus callosum 
  • Asthma
  • Brachydactyly
  • Cataract 
  • Chronic diarrhea
  • Cutaneous photosensitivity
  • Cutis marmorata
  • Delayed eruption of teeth 
  • Dry skin
  • High palate 
  • Hydrocephalus 
  • Hydronephrosis
  • Hypoparathyroidism 
  • Hypoplastic toenails
  • Joint hyperflexibility
  • Lymphoma 
  • Malabsorption
  • Metatarsus adductus
  • Myopia
  • Nystagmus
  • Pectus excavatum
  • Rectal prolapse
  • Sacral dimple 
  • Scoliosis 
  • Seizures 
  • Spina bifida occulta
  • Strabismus 
  • Thrombocytopenia
  • Toe syndactyly
  • Wide mouth

(Source: Dubowitz Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Dubowitz Syndrome Diagnosed?

Dubowitz Syndrome is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Dubowitz Syndrome?

The complications of Dubowitz Syndrome may include:

  • Development of cancer
  • Neurological impairment
  • Emotional stress due to cosmetic concerns

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Dubowitz Syndrome Treated?

  • Although there is no specific treatment or cure for Dubowitz Syndrome, there are ways to manage the symptoms
  • A team of doctors is often needed to figure out the treatment options for each person

(Source: Dubowitz Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Dubowitz Syndrome be Prevented?

Currently, Dubowitz Syndrome may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Dubowitz Syndrome? (Outcomes/Resolutions)

  • The prognosis of Dubowitz Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Dubowitz Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 18, 2018
Last updated: April 18, 2018