National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dubowitz syndrome

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Other Names:
Intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci; Dwarfism-eczema-peculiar facies syndrome
Categories:
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.[1][2] 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.[3][4][5] There may be an increased risk of having cancer such as leukemia, or lymphoma.[6]

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 (mutations) in the NSUN2 and LIG4 genes, or  have loss or gain of microscopic material in some chromosomes (chromosomal microdeletions or microduplications).[6][2][5][7][8] 

Although there is no specific treatment or cure, there are ways to control the symptoms. Often a team of doctors is needed to determine the treatment options for each person.[1][6]
Last updated: 6/7/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 112 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia of the thumb
Absent/small thumb
Absent/underdeveloped thumb
[ more ] 		0009601
Broad thumb
Broad thumbs
Wide/broad thumb
[ more ] 		0011304
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Intellectual disability
Mental deficiency
Mental retardation, nonspecific
Mental retardation
Mental-retardation
[ more ] 		0001249
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Telecanthus
Corners of eye widely separated
0000506
Underdeveloped supraorbital ridges
Flattened bony protrusion above eyes
0009891
30%-79% of people have these symptoms
Abnormality of female external genitalia
Abnormal female external genitalia
0000055
Abnormality of the antihelix 0009738
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Blepharophimosis
Narrow opening between the eyelids
0000581
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Delayed cranial suture closure 0000270
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Eczema 0000964
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] 		0002213
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hypospadias 0000047
Low anterior hairline
Low frontal hairline
Low-set frontal hairline
[ more ] 		0000294
Low-set, posteriorly rotated ears 0000368
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Narrow face
Decreased breadth of face
Decreased width of face
[ more ] 		0000275
Postnatal growth retardation
Growth delay as children
0008897
Protruding ear
Prominent ear
Prominent ears
[ more ] 		0000411
Ptosis
Drooping upper eyelid
0000508
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] 		0002719
Respiratory insufficiency
Respiratory impairment
0002093
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] 		0001852
Short foot
Short feet
Small feet
[ more ] 		0001773
Sloping forehead
Inclined forehead
Receding forehead
[ more ] 		0000340
Small hand
Disproportionately small hands
0200055
Sparse lateral eyebrow
Limited hair on end of eyebrow
0005338
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] 		0002209
Submucous cleft hard palate 0000176
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
5%-29% of people have these symptoms
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
[ more ] 		0001231
Abnormality of cardiovascular system morphology 0030680
Abnormality of neutrophils 0001874
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] 		0001000
Acute lymphoblastic leukemia 0006721
Anal stenosis
Narrowing of anal opening
0002025
Anemia
Low number of red blood cells or hemoglobin
0001903
Aplasia/Hypoplasia of the corpus callosum 0007370
Asthma 0002099
Brachydactyly
Short fingers or toes
0001156
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Chronic diarrhea 0002028
Craniosynostosis 0001363
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] 		0000992
Cutis marmorata 0000965
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] 		0000684
Dry skin 0000958
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hydronephrosis 0000126
Hypoparathyroidism
Decreased parathyroid hormone secretion
0000829
Hypoplastic toenails
Underdeveloped toenails
0001800
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Lymphoma
Cancer of lymphatic system
0002665
Malabsorption
Intestinal malabsorption
0002024
Metatarsus adductus
Front half of foot turns inward
0001840
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Pectus excavatum
Funnel chest
0000767
Rectal prolapse
Rectum protrudes through anus
0002035
Sacral dimple
Spinal dimple
0000960
Scoliosis 0002650
Seizure 0001250
Spina bifida occulta 0003298
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Thrombocytopenia
Low platelet count
0001873
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
Percent of people who have these symptoms is not available through HPO
Agenesis of permanent teeth
Failure of development of permanent teeth
Missing teeth
[ more ] 		0006349
Aplastic anemia 0001915
Autosomal recessive inheritance 0000007
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] 		0000455
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Decreased circulating IgA level 0002720
Decreased circulating IgG level 0004315
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Episodic vomiting 0002572
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Feeding difficulties in infancy 0008872
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
High forehead 0000348
High pitched voice 0001620
Hyperactivity
More active than typical
0000752
Hypermetropia
Farsightedness
Long-sightedness
[ more ] 		0000540
Hypoplasia of the iris
Underdeveloped iris
0007676
Inguinal hernia 0000023
Iris coloboma
Cat eye
0000612
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Megalocornea
Enlarged cornea
0000485
Microphthalmia
Abnormally small eyeball
0000568
Muscular hypotonia
Low or weak muscle tone
0001252
Neuroblastoma
Cancer of early nerve cells
0003006
Otitis media
Middle ear infection
0000388
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Rod-cone dystrophy 0000510
Short attention span
Poor attention span
Problem paying attention
[ more ] 		0000736
Short palpebral fissure
Short opening between the eyelids
0012745
Small face
Short and narrow face
Small facies
[ more ] 		0000274
Syndactyly
Webbed fingers or toes
0001159
Velopharyngeal insufficiency
Velopharyngeal incompetence
0000220
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes fetal alcohol syndrome, Bloom syndrome, LIG4 syndrome and Fanconi anemia (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Dubowitz syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Dubowitz syndrome:
    Inherited Bone Marrow Failure Syndrome Study (IBMFS)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dubowitz syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Yesikaya E, Karaer K, Bideci A, Camurdan O, Percin EF, Cinaz P. Dubowitz syndrome: a cholesterol metabolism disorder?. Genet Couns. 2008; 19(3):287-290. https://www.ncbi.nlm.nih.gov/pubmed/18990984.
  2. Dubowitz syndrome. National Organization for Rare Diseases (NORD). https://rarediseases.org/rare-diseases/dubowitz-syndrome/.
  3. Dubowitz syndrome. Am J Med Genet. May 3, 1966; 63(10:277-89. https://www.ncbi.nlm.nih.gov/pubmed/8723121.
  4. Ballini A, Cantore S, Tullo D & Desiate A. Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. Journal of Medical Case Reports. 2011; 5:38. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039604/.
  5. Dubowitz syndrome. Orphanet. 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=235.
  6. Dubowitz syndrome. Online Mendelian Inheritance in Man (OMIM). December 30, 2008; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=223370.
  7. Walne AJ, Collopy L, Cardoso S, et al. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. Haematologica. 2016; 101(10):1180-1189. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5046647/.
  8. Hancarova M, Malikova M, Kotrova M, Drabova J, Trkova M & Sedlacek Z. Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres. Am J Med Genet A. April 25, 2018; https://www.ncbi.nlm.nih.gov/pubmed/29696806.