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) |
| Hypotelorism | 5% |
| Agenesis of corpus callosum | - |
| Autosomal recessive inheritance | - |
| Blue sclerae | - |
| Bowing of the long bones | - |
| Broad forehead | - |
| Congenital hip dislocation | - |
| Deeply set eye | - |
| Failure to thrive | - |
| Frontal bossing | - |
| Gastroesophageal reflux | - |
| Hydrocephalus | - |
| Hypertelorism | - |
| Intrauterine growth retardation | - |
| Joint hypermobility | - |
| Large fontanelles | - |
| Malar flattening | - |
| Microcephaly | - |
| Midface retrusion | - |
| Narrow nasal ridge | - |
| Osteopenia | - |
| Prominent forehead | - |
| Protruding ear | - |
| Redundant skin | - |
| Scoliosis | - |
| Triangular face | - |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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 2B. If you have a question about any of these diseases, you can contact GARD.
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