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) |
| Arterial fibromuscular dysplasia | Very frequent (present in 80%-99% of cases) |
| Atelectasis | Very frequent (present in 80%-99% of cases) |
| Bladder diverticulum | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Emphysema | Very frequent (present in 80%-99% of cases) |
| Premature skin wrinkling | Very frequent (present in 80%-99% of cases) |
| Recurrent urinary tract infections | Very frequent (present in 80%-99% of cases) |
| Redundant skin | Very frequent (present in 80%-99% of cases) |
| Renal diverticulum | Very frequent (present in 80%-99% of cases) |
| Aortic aneurysm | Frequent (present in 30%-79% of cases) |
| Arterial stenosis | Frequent (present in 30%-79% of cases) |
| Delayed cranial suture closure | Frequent (present in 30%-79% of cases) |
| Full cheeks | Frequent (present in 30%-79% of cases) |
| Ileus | Frequent (present in 30%-79% of cases) |
| Inguinal hernia | Frequent (present in 30%-79% of cases) |
| Joint hyperflexibility | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Arachnodactyly | Occasional (present in 5%-29% of cases) |
| Arrhythmia | Occasional (present in 5%-29% of cases) |
| Bowel diverticulosis | Occasional (present in 5%-29% of cases) |
| Congestive heart failure | Occasional (present in 5%-29% of cases) |
| Hypothyroidism | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Pulmonic stenosis | Occasional (present in 5%-29% of cases) |
| Recurrent fractures | Occasional (present in 5%-29% of cases) |
| Respiratory distress | Occasional (present in 5%-29% of cases) |
| Vesicoureteral reflux | Occasional (present in 5%-29% of cases) |
| Wormian bones | Occasional (present in 5%-29% of cases) |
| Abnormality of the face | - |
| - | |
| Dilatation of ascending aorta | - |
| Heterogeneous | - |
| Joint laxity | - |
| - | |
| Oligohydramnios | - |
| Overgrowth | - |
| Pectus excavatum | - |
| Recurrent respiratory infections | - |
| Supravalvular aortic stenosis | - |
| Umbilical hernia | - |
| Vascular tortuosity | - |
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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, autosomal recessive type 1. 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.
