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) |
| Atelectasis | 90% |
| Bladder diverticulum | 90% |
| Congenital diaphragmatic hernia | 90% |
| Cutis laxa | 90% |
| Emphysema | 90% |
| Prematurely aged appearance | 90% |
| Recurrent urinary tract infections | 90% |
| Aneurysm | 50% |
| Arterial stenosis | 50% |
| Dilatation of the ascending aorta | 50% |
| Full cheeks | 50% |
| Hernia of the abdominal wall | 50% |
| Intestinal obstruction | 50% |
| Joint hypermobility | 50% |
| Ptosis | 50% |
| Abnormality of the pulmonary artery | 7.5% |
| Arachnodactyly | 7.5% |
| Arrhythmia | 7.5% |
| Bowel diverticulosis | 7.5% |
| Congestive heart failure | 7.5% |
| Hypothyroidism | 7.5% |
| Recurrent fractures | 7.5% |
| Reduced bone mineral density | 7.5% |
| Respiratory insufficiency | 7.5% |
| Vesicoureteral reflux | 7.5% |
| Wormian bones | 7.5% |
| Abnormality of the face | - |
| Ascending aortic aneurysm | - |
| Autosomal recessive inheritance | - |
| Heterogeneous | - |
| Inguinal hernia | - |
| Joint laxity | - |
| Microcephaly | - |
| Oligohydramnios | - |
| Overgrowth | - |
| Pectus excavatum | - |
| Recurrent respiratory infections | - |
| Redundant skin | - |
| 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.
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