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 the pupil | 90% |
| Abnormality of the tongue | 90% |
| Aplasia/Hypoplasia of the cerebellum | 90% |
| Arteriovenous malformation | 90% |
| Cognitive impairment | 90% |
| Conjunctival hamartoma | 90% |
| Dental malocclusion | 90% |
| Epibulbar dermoid | 90% |
| Exostoses | 90% |
| Foot polydactyly | 90% |
| Genu recurvatum | 90% |
| Incoordination | 90% |
| Increased intracranial pressure | 90% |
| Intestinal polyposis | 90% |
| Irregular hyperpigmentation | 90% |
| Lower limb asymmetry | 90% |
| Macrocephaly | 90% |
| Melanocytic nevus | 90% |
| Migraine | 90% |
| Myopia | 90% |
| Nausea and vomiting | 90% |
| Neoplasm of the breast | 90% |
| Neoplasm of the nervous system | 90% |
| Neoplasm of the thyroid gland | 90% |
| Seizures | 90% |
| Uterine neoplasm | 90% |
| Verrucae | 90% |
| Abnormality of the parathyroid gland | 50% |
| Abnormality of the penis | 50% |
| Abnormality of the teeth | 50% |
| Anemia | 50% |
| Cataract | 50% |
| Cavernous hemangioma | 50% |
| Communicating hydrocephalus | 50% |
| Dolichocephaly | 50% |
| Furrowed tongue | 50% |
| Gastrointestinal hemorrhage | 50% |
| Gingival overgrowth | 50% |
| Goiter | 50% |
| Heterochromia iridis | 50% |
| Hypermelanotic macule | 50% |
| Hyperostosis | 50% |
| Hypertrichosis | 50% |
| Mandibular prognathia | 50% |
| Meningioma | 50% |
| Mucosal telangiectasiae | 50% |
| Multiple lipomas | 50% |
| Palmoplantar keratoderma | 50% |
| Retinal detachment | 50% |
| Shagreen patch | 50% |
| Venous insufficiency | 50% |
| Intellectual disability | 12% |
| Intellectual disability, mild | 12% |
| Abnormality of neuronal migration | 7.5% |
| Abnormality of the palate | 7.5% |
| Abnormality of the retinal vasculature | 7.5% |
| Adenoma sebaceum | 7.5% |
| Anteverted nares | 7.5% |
| Autism | 7.5% |
| Bone cyst | 7.5% |
| Brachydactyly syndrome | 7.5% |
| Bronchogenic cyst | 7.5% |
| Cafe-au-lait spot | 7.5% |
| Gynecomastia | 7.5% |
| Hearing impairment | 7.5% |
| Hypopigmented skin patches | 7.5% |
| Kyphosis | 7.5% |
| Melanoma | 7.5% |
| Ovarian neoplasm | 7.5% |
| Pectus excavatum | 7.5% |
| Polycystic ovaries | 7.5% |
| Renal neoplasm | 7.5% |
| Scoliosis | 7.5% |
| Short stature | 7.5% |
| Skeletal dysplasia | 7.5% |
| Splenomegaly | 7.5% |
| Tall stature | 7.5% |
| Thymus hyperplasia | 7.5% |
| Abnormality of the cardiovascular system | - |
| Adult onset | - |
| Angioid streaks of the retina | - |
| Autosomal dominant inheritance | - |
| Breast carcinoma | - |
| Colonic diverticula | - |
| Fibroadenoma of the breast | - |
| Hamartomatous polyposis | - |
| High palate | - |
| Hydrocele testis | - |
| Hyperthyroidism | - |
| Hypoplasia of the maxilla | - |
| Hypothyroidism | - |
| Intention tremor | - |
| Narrow mouth | - |
| Ovarian cyst | - |
| Palmoplantar hyperkeratosis | - |
| Progressive macrocephaly | - |
| Skin tags | - |
| Subcutaneous lipoma | - |
| Thyroid adenoma | - |
| Thyroiditis | - |
| Transitional cell carcinoma of the bladder | - |
| Varicocele | - |
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Xeroderma Pigmentosum and other Diseases of Human Premature Aging and DNA Repair: Molecules to Patients Tuesday, September 5, 2006
Location: National Conference Center,
Lansdowne,
VA
Description: This meeting was a follow-up of one held in 2004. The purpose of this workshop was to gather leading scientists and clinicians in this very active area of research. The clinical and mechanistic aspects of Cowden's syndrome (CS) and related DNA repair/transcription defective disorders such as xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) were explored. Our goals were to develop new multidisciplinary collaborations, interactions, and relationships that can lead to a greater understanding of the pathophysiological mechanisms involved in these disorders and to conceive new therapeutic strategies for their treatment.
Contact: Dr. Vilhelm A. Bohr(301) 558-8223
Co-funding Institute(s): National Institute on Aging
The following diseases are related to Cowden syndrome. 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. Submit a new question
What types of treatments are there for Cowden syndrome? Should treatment begin right after diagnosis or is there a waiting period? See answer
My physician recently mentioned that I may be at risk for Cowden syndrome. What can you tell me about this condition? See answer
