Orpha Number: 2438
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||
|80%-99% of people have these symptoms|
|Proximal placement of thumb||0009623|
|Short 1st metacarpal||
Shortened 1st long bone of hand
|Short distal phalanx of finger||
Short outermost finger bone
|Short first metatarsal||
Short 1st long bone of foot
Short big toe
|Shortening of all middle phalanges of the fingers||
Shortened middle finger bones
|Synostosis of carpal bones||
Fusion of wrist bones
|Ureteropelvic junction obstruction||0000074|
|30%-79% of people have these symptoms|
|Clinodactyly of the 5th finger||0004209|
|Hypoplastic fifth toenail||
Small fifth toenail
Underdeveloped fifth toenail[ more ]
|Recurrent urinary tract infections||
Frequent urinary tract infections
Urinary tract infection
Urinary tract infections
Urinary tract infections, recurrent[ more ]
|5%-29% of people have these symptoms|
Underdeveloped ears[ more ]
Extra little finger
Extra pinkie finger
Extra pinky finger[ more ]
Squint eyes[ more ]
|Ventricular septal defect||0001629|
|Percent of people who have these symptoms is not available through HPO|
Cleft of scrotum
|Delayed ossification of carpal bones||0001216|
|Delayed tarsal ossification||0008103|
|Longitudinal vaginal septum||0008740|
Small penis[ more ]
Renal failure in adulthood[ more ]
|Short 2nd toe||
Short second toe
|Small thenar eminence||0001245|
|Ulnar deviation of the 2nd finger||0009464|
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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