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|
Abnormal shape of pelvic girdle bone
|Abnormality of the ribs||
Smaller or shorter than typical limbs
Low chest circumference
Narrow shoulders[ more ]
Shorter than typical length between neck and abdomen
|30%-79% of people have these symptoms|
|Abnormality of the clavicle||
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|Abnormality of the sternum||
Short fingers or toes
Cone-shaped end part of bone
Small feet[ more ]
|5%-29% of people have these symptoms|
|Abnormality of retinal pigmentation||0007703|
|Abnormality of the liver||
Liver abnormality[ more ]
|Aplasia/Hypoplasia of the lungs||
Absent/underdeveloped lungs[ more ]
|Death in infancy||
Lethal in infancy[ more ]
|Feeding difficulties in infancy||0008872|
Extra toe attached near the little toe
|Postaxial hand polydactyly||
Extra little finger
Extra pinkie finger
Extra pinky finger[ more ]
Renal failure in adulthood[ more ]
Decreased body height
Small stature[ more ]
Webbed toes[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Bile duct proliferation||0001408|
|Cone-shaped epiphyses of the phalanges of the hand||
Cone-shaped end part of finger bones
|Early ossification of capital femoral epiphyses||0008797|
Short calf bone
Duplication of bones of the toes
|Hypoplasia of the ulna||
Underdeveloped inner large forearm bone
|Hypoplastic iliac wing||0002866|
Irregular end part of long bone
Yellowing of the skin[ more ]
|Lateral clavicle hook||
Irregular wide portion of a long bone
|Polycystic liver disease||0006557|
High urine protein levels
Protein in urine[ more ]
Underdeveloped lung[ more ]
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
|Short phalanx of finger||
Short finger bones
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 diagnosis should include thoracolaryngopelvic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome and paternal uniparental disomy of chromosome 14 (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.