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Disease Profile

Cutis laxa

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

-

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

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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.

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)

Generalized elastolysis

Summary

Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy. The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. Depending on which organs and tissues are affected, the signs and symptoms can range from mild to life-threatening.[1] It may be acquired or inherited. The different forms of inherited cutis laxa are distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms tend to be more severe than the autosomal dominant form. The X-linked form of cutis laxa is often called occipital horn syndrome.[1][2]

    Symptoms

    The signs and symptoms of cutis laxa vary depending on the specific type the person has. Cutis laxa can be acquired or inherited. The inherited types are classified by their inheritance pattern. The recessive types are usually more severe than the dominant types. X-linked cutis laxa is known as occipital horn syndrome. You can learn more about the inherited types by visiting the links below.[3][2]

    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
    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
    Short stature
    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 developmental delay
    0001263
    Hydrocephalus
    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
    Micrognathia
    Little lower jaw
    Small jaw
    Small lower jaw

    [ more ]

    0000347
    Muscle weakness
    Muscular weakness
    0001324
    Muscular hypotonia
    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
    Ptosis
    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
    Scoliosis
    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
    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

      Social Networking Websites

        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

            1. Cutis laxa. Genetics Home Reference. June 2009; https://ghr.nlm.nih.gov/condition/cutis-laxa.
            2. 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.
            3. US National Library of Medicine. Cutis laxa. Genetics Home Reference. June 2009; https://ghr.nlm.nih.gov/condition/cutis-laxa.

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