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Disease Profile
De Barsy syndrome
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.
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Age of onset
Infancy
ICD-10
Q87.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Corneal clouding, cutis laxa and intellectual disability; Progeroid syndrome of De Barsy; Cutis laxa growth deficiency syndrome;
Categories
Congenital and Genetic Diseases
Summary
De Barsy
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 | ||
| Adducted thumb |
Inward turned thumb
|
0001181 |
| Athetosis |
Involuntary writhing movements in fingers, hands, toes, and feet
|
0002305 |
| Brachycephaly |
Short and broad skull
|
0000248 |
|
Dislocated hip since birth
|
0001374 | |
| Corneal opacity | 0007957 | |
| Coxa vara | 0002812 | |
| Cutis laxa |
Loose and inelastic skin
|
0000973 |
| Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
| Decreased muscle mass | 0003199 | |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
| Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| 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 |
| Dermal translucency | 0010648 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Fragmented elastic fibers in the dermis | 0025167 | |
| Generalized joint laxity |
Hypermobility of all joints
|
0002761 |
| Global |
0001263 | |
| High myopia |
Severe near sightedness
Severely close sighted
Severely near sighted
[ more ] |
0011003 |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Hyperreflexia |
Increased reflexes
|
0001347 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Inguinal hernia | 0000023 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
| Kyphoscoliosis | 0002751 | |
| Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ] |
0009748 |
| Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
| Narrow mouth |
Small mouth
|
0000160 |
| Nasal speech |
Nasal voice
|
0001611 |
| Osteopenia | 0000938 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Premature rupture of membranes | 0001788 | |
| Progeroid facial appearance |
Premature aged appearance
|
0005328 |
| Progressive |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ] |
0000253 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
| Prominent nasolabial fold |
Deep laugh lines
Deep smile lines
Prominent laugh lines
Prominent smile lines
[ more ] |
0005272 |
| Prominent veins on trunk | 0007457 | |
| Recurrent sinopulmonary infections |
Recurrent sinus and lung infections
|
0005425 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Small, conical teeth |
Small, cone shaped teeth
|
0200141 |
| Sparse hair | 0008070 | |
| Talipes calcaneovalgus | 0001884 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
| Thin skin | 0000963 | |
| Umbilical hernia | 0001537 | |
| Wormian bones |
Extra bones within cranial sutures
|
0002645 |
| 30%-79% of people have these symptoms | ||
| Abnormal |
0001273 | |
| Abnormal fundus fluorescein |
0030604 | |
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
| Cerebellar vermis hypoplasia | 0001320 | |
| Excessive wrinkled skin | 0007392 | |
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The eye anomalies, athetoid movements and hyperreflexia are distinguishing features of DBS that usually allow this syndrome to be differentiated from GO, ARCL2 and WSS.
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 De Barsy syndrome. Click on the link to view a sample search on this topic.
References
- Morava, Eva. De Barsy Syndrome. NORD. 2014; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/979/viewAbstract. Accessed 10/20/2016.
- CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B. Online Mendelian Inheritance in Man (OMIM). Oct, 2015; https://omim.org/entry/614438. Accessed 10/20/2016.
- CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A. Online Mendelian Inheritance in Man (OMIM). Aug, 2016; https://www.omim.org/entry/219150. Accessed 10/20/2016.
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