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Disease Profile
Cutis laxa
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
-
ICD-10
Q82.8
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)
Generalized elastolysis
Summary
Cutis laxa is a
Symptoms
- Autosomal recessive cutis laxa
- Autosomal recessive cutis laxa type 1
- Autosomal recessive cutis laxa type 2
- De Barsy syndrome (also known as AR cutis laxa type 3, subdivided in type A and type B, according to the
mutated gene ) - Geroderma osteodysplasticum
- Occipital horn syndrome (inheritance is X-linked)
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 | ||
Abnormality of retinal pigmentation | 0007703 | |
Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ] |
0010318 |
Bowel diverticulosis | 0005222 | |
Esophageal diverticulum | 0100628 | |
Excessive wrinkled skin | 0007392 | |
Inguinal hernia | 0000023 | |
Lack of skin elasticity | 0100679 | |
Patent ductus arteriosus | 0001643 | |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] |
0001582 |
Decreased body height
Small stature
[ more ] |
0004322 | |
30%-79% of people have these symptoms | ||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
Aplasia/Hypoplasia of the tongue | 0010295 | |
Bowel incontinence |
Loss of bowel control
|
0002607 |
Bronchiectasis |
Permanent enlargement of the airways of the lungs
|
0002110 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Ectopic anus |
Abnormal anus position
|
0004397 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Genital hernia | 0100823 | |
Global |
0001263 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hydroureter | 0000072 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Long philtrum | 0000343 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Malabsorption |
Intestinal malabsorption
|
0002024 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow mouth |
Small mouth
|
0000160 |
Pectus excavatum |
Funnel chest
|
0000767 |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] |
0001357 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Drooping upper eyelid
|
0000508 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 |
0002650 | ||
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 |
Turricephaly |
Tall shaped skull
Tower skull shape
[ more ] |
0000262 |
Vesicoureteral reflux | 0000076 | |
5%-29% of people have these symptoms | ||
Abnormal blistering of the skin |
Blistering, generalized
Blisters
[ more ] |
0008066 |
Abnormal heart valve morphology | 0001654 | |
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Atrial septal defect |
Conditions with similar signs and symptoms from Orphanet
|
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The main differential diagnosis is the Ehlers-Danlos syndromes (see these terms) but similar skin manifestations may also occur in patients with Williams syndrome, pseudoxanthoma elasticum, Hutchinson Gilford syndrome, Barber Say syndrome, Costello syndrome, Cardio-Facio-Cutaneous syndrome and Kabuki syndrome (see these terms). Inherited forms of CL should also be distinguished from acquired CL which is commonly preceded by urticaria, angioedema, local or generalized inflammatory skin disease or drug hypersensitivity reactions.
Visit the Orphanet disease page for more information.
|
Organizations
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
-
Cutis Laxa Internationale
138 impasse de Champs Gervais
FR-74890 Bons en Chablais
France
Telephone: +33 (0)4 56 30 74 43
E-mail: [email protected]
Website: https://www.cutislaxa.org/
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
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- Genetics Home Reference (GHR) contains information on Cutis laxa. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- 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
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- 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 Cutis laxa. Click on the link to view a sample search on this topic.
References
- Cutis laxa. Genetics Home Reference. June 2009; https://ghr.nlm.nih.gov/condition/cutis-laxa.
- Goyal M, Singh A, Kornak U & Kapoor S. The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity. Indian J Dermatol. September October 2015; 60(5):521.
- US National Library of Medicine. Cutis laxa. Genetics Home Reference. June 2009; https://ghr.nlm.nih.gov/condition/cutis-laxa.
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