Orpha Number: 3237
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 | ||
|
Short fingers or toes
|
0001156 | |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Short palm | 0004279 | |
| Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
| 30%-79% of people have these symptoms | ||
| Bilateral single transverse palmar creases | 0007598 | |
| Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ]
|
0011304 |
| Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the nail | 0001597 | |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Percent of people who have these symptoms is not available through HPO | ||
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| Abnormal vertebral morphology | 0003468 | |
| Absent distal interphalangeal creases | 0001032 | |
| Absent distal phalanges |
Absent outermost digital bones
|
0005807 |
| Anonychia |
Absent nails
Aplastic nails
[ more ]
|
0001798 |
| Aplasia/Hypoplasia of the middle phalanges of the hand |
Absent/small middle finger bone of the hand
Absent/underdeveloped middle finger bone of the hand
[ more ]
|
0009843 |
| Aplastic/hypoplastic toenail |
Absent/small toenails
Absent/underdeveloped toenails
[ more ]
|
0010624 |
| 0000006 | ||
| Carpal synostosis | 0009702 | |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Cubitus valgus |
Outward turned elbows
|
0002967 |
| Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ]
|
0010554 |
| Dislocated radial head | 0003083 | |
| Enlargement of the costochondral junction | 0000920 | |
| Fusion of midphalangeal joints | 0006187 | |
| Hypoplastic nasal septum |
Decreased size of nasal septum
Decreased size of septum of nose
Small nasal septum
Small septum of nose
[ more ]
|
0005104 |
| Hypoplastic spinal processes |
Underdeveloped spinal processes
|
0008460 |
| Lower limb undergrowth |
Underdeveloped lower limb bones
|
0009816 |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Progressive conductive hearing impairment | 0008607 | |
| Proximal symphalangism of hands |
Fused innermost hinge joints
|
0006152 |
| Radial deviation of finger | 0009466 | |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short hallux |
Short big toe
|
0010109 |
| Short humerus |
Short long bone of upper arm
Short upper arms
[ more ]
|
0005792 |
| Short lower limbs |
Short legs
|
0006385 |
| Short philtrum | 0000322 | |
| Short sternum | 0000879 | |
| Single transverse palmar crease | 0000954 | |
| Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
| Stapes ankylosis | 0000381 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Tarsal synostosis |
Fused ankle bones
|
0008368 |
| Thick upper lip vermilion |
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip
[ more ]
|
0000215 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
| Waddling gait |
'Waddling' gait
Waddling walk
[ more ]
|
0002515 |
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.
