Orpha Number: 63446
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|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Decreased body height
Small stature[ more ]
|30%-79% of people have these symptoms|
Wide fingernails[ more ]
|Cone-shaped metacarpal epiphyses||
Cone-shaped end part of long bone
|Flared iliac wings||0002869|
|Ovoid vertebral bodies||0003300|
|5%-29% of people have these symptoms|
Increased size of skull
Large head circumference[ more ]
Low chest circumference
Narrow shoulders[ more ]
Abnormal curving of the spine
|Percent of people who have these symptoms is not available through HPO|
Short fingers or toes
|Cone-shaped capital femoral epiphysis||
Cone-shaped end part of innermost thighbone
|Cone-shaped epiphysis of the 1st metacarpal||
Cone-shaped end part of the 1st long bone of hand
|Delayed ossification of carpal bones||0001216|
|Disproportionate short stature||0003498|
|Disproportionate short-limb short stature||
Short limb dwarfism, disproportionate
Short-limbed dwarfism[ more ]
|Dysplasia of the femoral head||0010575|
|Enlargement of the distal femoral epiphysis||
Enlargement of the outermost thighbone end part
Overgrowth of calf bone
|Hypoplasia of the radius||0002984|
|Hypoplasia of the ulna||0003022|
|Hypoplastic iliac wing||0002866|
Relatively large head
|Short distal phalanx of finger||
Short outermost finger bone
|Short femoral neck||
Short neck of thighbone
Short long bone of upper arm
Short upper arms[ more ]
Shortened long bone of hand
|Short proximal phalanx of finger||
Short innermost finger bones
|Short proximal phalanx of thumb||0009638|
Short skankbone[ more ]
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.
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