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|
|Abnormality of femur morphology||
Abnormality of the thighbone
|Abnormality of the carpal bones||0001191|
|Abnormality of the hip bone||
Abnormality of the hips
|Abnormality of the humerus||0003063|
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Absent/underdeveloped toenails[ more ]
Short fingers or toes
|Clinodactyly of the 5th finger||
Permanent curving of the pinkie finger
Cone-shaped end part of bone
|Depressed nasal bridge||
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root[ more ]
Thickening of shaft or central part of long bones
|Disproportionate short-limb short stature||
Short limb dwarfism, disproportionate
Short-limbed dwarfism[ more ]
|Dorsal subluxation of ulna||0006459|
Outward bowing at knees[ more ]
|Hypoplasia of the radius||
Underdeveloped outer large forearm bone
|Hypoplasia of the ulna||
Underdeveloped inner large forearm bone
Underdeveloped fingernail[ more ]
Stiff joints[ more ]
|Limited wrist movement||
Limited movement of the wrist
Disproportionately short middle portion of limb
Smaller or shorter than typical limbs
Bowing of outer large bone of the forearm
Short skankbone[ more ]
Bowed shinbone[ more ]
|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 ]
|30%-79% of people have these symptoms|
|Abnormality of calvarial morphology||
Abnormality of the shape of cranium
Abnormally shaped skull[ more ]
Dislocations of the elbows
Elbow dislocations[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal metatarsal morphology||
Abnormality of the long bone of foot
Short calf bone
Increased palatal height[ more ]
|Increased carrying angle||0003102|
|Limited elbow movement||
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion[ more ]
Abnormal curving of the spine
|Short 4th metacarpal||
Shortened 4th long bone of hand
Stubby toes[ more ]
|Skeletal muscle hypertrophy||
Increased skeletal muscle cells
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.
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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 diagnoses should include the other SHOX-related haploinsufficiency disorders and related conditions such as Turner syndrome and distal monosomy Xp (see these terms).
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.