National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cutis laxa

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]
Last updated: 4/1/2016
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]
Last updated: 4/1/2016

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
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
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Cachexia
Wasting syndrome
0004326
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Craniosynostosis 0001363
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Eczema 0000964
Emphysema 0002097
Erythema 0010783
Exostoses
Formation of new noncancerous bone on top of existing bone
0100777
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypothyroidism
Underactive thyroid
0000821
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] 		0001974
Macular coloboma 0001116
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Pectus carinatum
Pigeon chest
0000768
Respiratory insufficiency
Respiratory impairment
0002093
Short neck
Decreased length of neck
0000470
Urticaria
Hives
0001025
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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Last updated: 7/1/2020

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 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.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Cutis laxa. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Cutis Laxa Research Study
    University of Pittsburgh
    Dept. of Human Genetics
    A300 Crabtree Hall, GSPH
    130 De Soto Street
    Pittsburgh, PA 15261
    Telephone: 412-383-7369
    E-mail: cutislax@pitt.edu
    Website: http://www.cutislaxa.pitt.edu
    The Cutis Laxa Research Study is an ongoing project coordinated by the University of Pittsburgh. Their research focuses on identifying the genetic causes of cutis laxa in an effort to better understand the effect of gene mutations and develop new treatments. Use the provided contact information to learn more.

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Cutis laxa. Genetics Home Reference. June 2009; http://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; http://ghr.nlm.nih.gov/condition/cutis-laxa.