Orpha Number: 958
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 | ||
| Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
| Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
| Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
| Rudimentary fibula |
Small to absent calf bone
|
0006381 |
| Rudimentary to absent tibiae | 0006426 | |
| Split foot |
Lobster-claw foot deformity
Split-foot
[ more ]
|
0001839 |
| Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the clavicle |
Abnormal collarbone
|
0000889 |
| Abnormality of the sense of smell |
Abnormal sense of smell
Smell defect
[ more ]
|
0004408 |
| Bicornuate uterus |
Heart shaped uterus
Heart-shaped uterus
[ more ]
|
0000813 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
| Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ]
|
0010669 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Low-set, posteriorly rotated ears | 0000368 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
| Short neck |
Decreased length of neck
|
0000470 |
| Thin ribs |
Slender ribs
|
0000883 |
| Uterus didelphys | 0003762 | |
| 5%-29% of people have these symptoms | ||
| Abnormal lung lobation | 0002101 | |
| Aplasia/Hypoplasia of the tongue | 0010295 | |
| Butterfly vertebrae | 0003316 | |
| 0000776 | ||
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Finger |
0006101 | |
| Hemivertebrae |
Missing part of vertebrae
|
0002937 |
| Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| 0002650 | ||
| Short philtrum | 0000322 | |
| Sprengel anomaly |
High shoulder blade
|
0000912 |
| Tracheoesophageal fistula | 0002575 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal sacral segmentation | 0008468 | |
| Abnormality of the breast | 0000769 | |
| Abnormality of the cardiovascular system |
Cardiovascular abnormality
|
0001626 |
| Abnormality of the ureter | 0000069 | |
| Absent nipple |
Absent nipples
|
0002561 |
| Aplasia of the bladder |
Absent bladder
|
0010477 |
| 0000007 | ||
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Foot |
Duplication of bones of the toes
|
0001829 |
| Hand polydactyly |
Extra finger
|
0001161 |
| Kyphoscoliosis | 0002751 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Missing ribs |
Absent ribs
Decreased rib number
[ more ]
|
0000921 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Narrow palate |
Narrow roof of mouth
|
0000189 |
| Polycystic kidney dysplasia | 0000113 | |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
| Scaphocephaly | 0030799 | |
| Toe syndactyly |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| Unicornuate uterus | 0031909 | |
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.
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.
