Rare Pulmonology News

Disease Profile

De Barsy 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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)

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 syndrome is a rare genetic disorder originally described in 1968 and classified as a form of cutis laxa. Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, and lacking elasticity. The specific symptoms and the severity of De Barsy syndrome can vary greatly. Features that may be seen include eye abnormalities, growth abnormalities, and a prematurely-aged appearance. Distinctive facial features, skeletal malformations, and neurological abnormalities may also occur. [1] Some cases of De Barsy syndrome have been linked to mutations in either the PYCR1 or ALDH18A1 genes. De Barsy syndrome is inherited in an autosomal recessive manner. [1][2][3] There are no standardized treatment protocols; treatment generally focuses on the signs and symptoms present in each individual.[1]

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.

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.

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
Congenital hip dislocation
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 developmental delay
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 hypotonia
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 microcephaly
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
Short stature
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 corpus callosum morphology
0001273
Abnormal fundus fluorescein angiography
0030604
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Cataract
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

  1. Morava, Eva. De Barsy Syndrome. NORD. 2014; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/979/viewAbstract. Accessed 10/20/2016.
  2. CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B. Online Mendelian Inheritance in Man (OMIM). Oct, 2015; https://omim.org/entry/614438. Accessed 10/20/2016.
  3. 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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