Rare Rheumatology News

Disease Profile

Dubowitz syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q87.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Intrauterine growth restriction, short stature, microcephaly, mild intellectual disab with behavior problems, eczema, and unusual and distinctive faci; Dwarfism-eczema-peculiar facies syndrome

Categories

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases;

Summary

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]

Symptoms

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.

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-retardation
Mental retardation, nonspecific
Mental retardation
Mental deficiency

[ 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 ]

Related diseases

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.

Learn more

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.

      References

      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; https://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.

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