This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
|
Cleft roof of mouth
|
0000175 | |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the nail | 0001597 | |
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
| Ankyloblepharon |
Adhesion of eyelids
Eyelids stuck together
[ more ]
|
0009755 |
| Bifid scrotum |
Cleft of scrotum
|
0000048 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Fibrous syngnathia | 0009754 | |
| Finger syndactyly | 0006101 | |
| Hypoplastic labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ]
|
0000059 |
| Lip pit | 0100267 | |
| Nonketotic hyperglycinemia | 0008288 | |
| Non-midline |
0100335 | |
| Popliteal pterygium | 0009756 | |
| 0002650 | ||
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| 5%-29% of people have these symptoms | ||
| Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
| Specific learning disability | 0001328 | |
| Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Cleft upper lip |
Harelip
|
0000204 |
| Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ]
|
0010554 |
|
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
| Hypoplasia of the uterus |
Small uterus
Underdeveloped uterus
[ more ]
|
0000013 |
| Hypoplasia of the vagina |
Underdeveloped vagina
|
0008726 |
| Intercrural pterygium | 0009757 | |
| Lower lip pit | 0000196 | |
| Pyramidal skinfold extending from the base to the top of the nails | 0009758 | |
| Spina bifida occulta | 0003298 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Mildly affected AD-PPS patients have significant clinical overlap with Van der Woude syndrome (VWS), a disorder caused by deletions and mutations in the same gene (IRF6). In fact, affected individuals in the same family, having the same mutation in IRF6, have been diagnosed with AD-PPS and with VWS. The cause of this variable expressivity is not known. Bartsocas-Papas syndrome, CHAND syndrome and multiple pterygium syndrome should also be considered.
Visit the
Orphanet disease page
for more information.
|
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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.
