The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of retinal pigmentation | Very frequent (present in 80%-99% of cases) |
| Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent (present in 80%-99% of cases) |
| Bowel diverticulosis | Very frequent (present in 80%-99% of cases) |
| Esophageal diverticulum | Very frequent (present in 80%-99% of cases) |
| Excessive wrinkled skin | Very frequent (present in 80%-99% of cases) |
| Inguinal hernia | Very frequent (present in 80%-99% of cases) |
| Lack of skin elasticity | Very frequent (present in 80%-99% of cases) |
| Patent ductus arteriosus | Very frequent (present in 80%-99% of cases) |
| Redundant skin | Very frequent (present in 80%-99% of cases) |
| Abnormality of the hip bone | Frequent (present in 30%-79% of cases) |
| Abnormality of the palate | Frequent (present in 30%-79% of cases) |
| Aplasia/Hypoplasia of the tongue | Frequent (present in 30%-79% of cases) |
| Bowel incontinence | Frequent (present in 30%-79% of cases) |
| Bronchiectasis | Frequent (present in 30%-79% of cases) |
| Carious teeth | Frequent (present in 30%-79% of cases) |
| Depressed nasal ridge | Frequent (present in 30%-79% of cases) |
| Ectopic anus | Frequent (present in 30%-79% of cases) |
| Epicanthus | Frequent (present in 30%-79% of cases) |
| Genital hernia | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Hydroureter | Frequent (present in 30%-79% of cases) |
| Intrauterine growth retardation | Frequent (present in 30%-79% of cases) |
| Joint dislocation | Frequent (present in 30%-79% of cases) |
| Large fontanelles | Frequent (present in 30%-79% of cases) |
| Long philtrum | Frequent (present in 30%-79% of cases) |
| Low-set ears | Frequent (present in 30%-79% of cases) |
| Malabsorption | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Muscular |
Frequent (present in 30%-79% of cases) |
| Narrow mouth | Frequent (present in 30%-79% of cases) |
| Pectus excavatum | Frequent (present in 30%-79% of cases) |
| Plagiocephaly | Frequent (present in 30%-79% of cases) |
| Prominent forehead | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Recurrent respiratory infections | Frequent (present in 30%-79% of cases) |
| Recurrent urinary tract infections | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Short nose | Frequent (present in 30%-79% of cases) |
| Telecanthus | Frequent (present in 30%-79% of cases) |
| Thickened nuchal skin fold | Frequent (present in 30%-79% of cases) |
| Turricephaly | Frequent (present in 30%-79% of cases) |
| Vesicoureteral reflux | Frequent (present in 30%-79% of cases) |
| Abnormal blistering of the skin | Occasional (present in 5%-29% of cases) |
| Abnormality of metabolism/homeostasis | Occasional (present in 5%-29% of cases) |
| Anteverted nares | Occasional (present in 5%-29% of cases) |
| Aortic valve stenosis | Occasional (present in 5%-29% of cases) |
| Atrial septal defect | Occasional (present in 5%-29% of cases) |
| Cachexia | Occasional (present in 5%-29% of cases) |
| Congestive heart failure | Occasional (present in 5%-29% of cases) |
| Downslanted palpebral fissures | Occasional (present in 5%-29% of cases) |
| Eczema | Occasional (present in 5%-29% of cases) |
| Emphysema | Occasional (present in 5%-29% of cases) |
| Erythema | Occasional (present in 5%-29% of cases) |
| Exostoses | Occasional (present in 5%-29% of cases) |
| Hypertelorism | Occasional (present in 5%-29% of cases) |
| Hypothyroidism | Occasional (present in 5%-29% of cases) |
| Leukocytosis | Occasional (present in 5%-29% of cases) |
| Macular coloboma | Occasional (present in 5%-29% of cases) |
| Midface retrusion | Occasional (present in 5%-29% of cases) |
| Pectus carinatum | Occasional (present in 5%-29% of cases) |
| Respiratory insufficiency | Occasional (present in 5%-29% of cases) |
| Short neck | Occasional (present in 5%-29% of cases) |
| Urticaria | Occasional (present in 5%-29% of cases) |
| Ventricular septal defect | Occasional (present in 5%-29% of cases) |
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.
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.
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.
The following diseases are related to Cutis laxa. If you have a question about any of these diseases, you can contact GARD.
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.
