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 | ||
| Ankyloblepharon |
Adhesion of eyelids
Eyelids stuck together
[ more ]
|
0009755 |
| Coarse hair |
Coarse hair texture
|
0002208 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Dystrophic fingernails |
Poor fingernail formation
|
0008391 |
| Dystrophic toenail |
Poor toenail formation
|
0001810 |
| Hyperconvex fingernails | 0001812 | |
| Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
| Non-midline |
0100335 | |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
| 30%-79% of people have these symptoms | ||
| Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
| Conical tooth |
Cone shaped tooth
Shark tooth
[ more ]
|
0000698 |
| Generalized hyperpigmentation | 0007440 | |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
| Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
| Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
| Submucous cleft hard palate | 0000176 | |
| Submucous cleft soft palate | 0011819 | |
| Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ]
|
0000687 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the voice |
Voice abnormality
|
0001608 |
| Absent lacrimal punctum | 0001092 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Finger |
0006101 | |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Supernumerary nipple |
Accessory nipple
|
0002558 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Percent of people who have these symptoms is not available through HPO | ||
| 2-3 toe syndactyly |
Webbed 2nd and 3rd toes
|
0004691 |
| Abnormality of the nervous system |
Neurologic abnormalities
Neurological abnormality
[ more ]
|
0000707 |
| Absent eyelashes |
Failure of development of eyelashes
|
0000561 |
| Anhidrosis |
Lack of sweating
Sweating dysfunction
[ more ]
|
0000970 |
| Anonychia |
Absent nails
Aplastic nails
[ more ]
|
0001798 |
| Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
| 0000006 | ||
| Blepharitis |
Inflammation of eyelids
|
0000498 |
|
Cleft roof of mouth
|
0000175 | |
| Cleft upper lip |
Harelip
|
0000204 |
| Conjunctivitis |
Pink eye
|
0000509 |
| Hyperconvex nail |
Increased nail curvature
Nail overcurvature
[ more ]
|
0001795 |
| Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
| Hypospadias | 0000047 | |
| Lacrimal duct atresia |
Unopened tear duct
|
0000564 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Nail dystrophy |
Poor nail formation
|
0008404 |
| Oval face |
Oval facial shape
|
0000300 |
| Patchy alopecia |
Patchy baldness
|
0002232 |
| Patent ductus arteriosus | 0001643 | |
| Selective tooth agenesis | 0001592 | |
| Sparse body hair | 0002231 | |
| Vaginal dryness | 0031088 | |
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
|
|---|
|
Differential diagnosis may include epidermolysis bullosa simplex, disorders of cornification, CHAND syndrome and hypohidrotic ectodermal dysplasia. Allelic disorders include Acro-dermal-ungual-lacrimal-tooth (ADULT) syndrome, ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, limb-mammary syndrome and split hand/foot malformation type 4. AEC is generally distinguished from these other disorders by clinical features (particularly scalp erosions) as well as the location of the TP63 change. The Rapp-Hodgkin syndrome is not a separate disease entity, but is now considered part of the disease spectrum of AEC syndrome.
Visit the
Orphanet disease page
for more information.
|
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.
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.
