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De Barsy syndrome


Other Names:
Corneal clouding, cutis laxa and intellectual disability; Progeroid syndrome of De Barsy; Cutis laxa growth deficiency syndrome; Corneal clouding, cutis laxa and intellectual disability; Progeroid syndrome of De Barsy; Cutis laxa growth deficiency syndrome; Progeroid syndrome, De Barsy type; Cutis laxa-corneal clouding-intellectual disability syndrome See More
Categories:
This disease is grouped under:
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]
Last updated: 10/20/2016

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.

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Medical Terms Other Names
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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
Progressive cerebellar ataxia 0002073
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
5%-29% of people have these symptoms
Bilateral sensorineural hearing impairment 0008619
Cryptorchidism
Undescended testis
Undescended testes
[ more ] 		0000028
Hypoplastic aortic arch
Underdeveloped aortic arch
0012304
Patent ductus arteriosus 0001643
Persistent left superior vena cava 0005301
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Corneal arcus 0001084
Frontal bossing 0002007
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hypotelorism
Abnormally close eyes
Closely spaced eyes
[ more ] 		0000601
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] 		0001382
Large fontanelles
Wide fontanelles
0000239
Macrotia
Large ears
0000400
Muscular hypotonia
Low or weak muscle tone
0001252
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Narrow nasal ridge
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge
[ more ] 		0000418
Prominent superficial blood vessels
Prominent superficial vasculature
0007394
Scoliosis 0002650
Seizure 0001250
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] 		0003510
Sporadic
No previous family history
0003745
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Wide cranial sutures
Large cranial suture
Persistent open cranial sutures
[ more ] 		0010537
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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
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.

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.

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  1. Morava, Eva. De Barsy Syndrome. NORD. 2014; http://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; http://www.omim.org/entry/219150. Accessed 10/20/2016.