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 | ||
| Bulbous nose | 0000414 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
| Frontal bossing | 0002007 | |
| Long philtrum | 0000343 | |
| Long upper lip |
Elongation of upper lip
Increased height of upper lip
Increased vertical length of upper lip
[ more ]
|
0011341 |
| Macrotia |
Large ears
|
0000400 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short metatarsal |
Short long bone of foot
|
0010743 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Shortening of all phalanges of fingers |
Shortening of all finger bones
|
0011910 |
| Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
| Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
| Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
|
0000325 |
| 30%-79% of people have these symptoms | ||
| Avascular necrosis of the capital femoral epiphysis | 0005743 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Fragile nails |
Brittle nails
|
0001808 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ]
|
0011069 |
| Leukonychia |
White discoloration of nails
|
0001820 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| 0002650 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the nervous system |
Neurologic abnormalities
Neurological abnormality
[ more ]
|
0000707 |
| Accelerated bone age after puberty | 0002805 | |
| 0000006 | ||
|
Short fingers or toes
|
0001156 | |
| Cone-shaped epiphyses of the middle phalanges of the hand |
Cone-shaped end part of the middle hand bones
|
0010259 |
| Coxa magna | 0003279 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
| Osteopenia | 0000938 | |
| Pear-shaped nose | 0000447 | |
| Short finger |
Stubby finger
|
0009381 |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short palm | 0004279 | |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Smooth philtrum | 0000319 | |
| Sparse hair | 0008070 | |
| Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
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.
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. Submit a new question
What have been the affects of TRPS in the later years in life? Does any of the other people that have it have a problem with excessive sweating? If so, is there any kind of treatment that can cure it? See answer
