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)|
|Abnormal blistering of the skin||90%|
|Aplasia/Hypoplasia of the skin||90%|
|Abnormality of dental enamel||50%|
|Abnormality of skin pigmentation||50%|
|Abnormality of the gastric mucosa||50%|
|Abnormality of the preputium||50%|
|Abnormality of the toenails||50%|
|Camptodactyly of finger||50%|
|Feeding difficulties in infancy||50%|
|Premature loss of primary teeth||50%|
|Abnormality of calvarial morphology||7.5%|
|Abnormality of the eyelid||7.5%|
|Abnormality of the larynx||7.5%|
|Abnormality of the metacarpal bones||7.5%|
|Abnormality of the ribs||7.5%|
|Abnormality of the urethra||7.5%|
|Atypical scarring of skin||7.5%|
|Inflammation of the large intestine||7.5%|
|Inflammatory abnormality of the eye||7.5%|
|Neoplasm of the skin||7.5%|
|Opacification of the corneal stroma||7.5%|
|Urinary tract neoplasm||7.5%|
|Amniotic constriction ring||-|
|Autosomal recessive inheritance||-|
|Diffuse skin atrophy||-|
|Telangiectases in sun-exposed and nonexposed skin||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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.
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My mother had Kindler Syndrome. I now have two daughters of my own. It never even crossed my mind during my pregnancies that I might be passing along this gene or give birth to a child with Kindler Syndrome. In general, what is the likelihood of me having a child with this disease? See answer
A young woman with Kindler syndrome recently developed breast cancer. She will have surgery and needs radiation therapy. Is it safe to give radiation therapy considering she has Kindler syndrome? Are there chemotherapy drugs that should be avoided? Can she take trastuzumab? If she needs hormonal treatment, which medication may be the safest choice? See answer