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 | ||
| Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
| Abnormal heart valve morphology | 0001654 | |
| Abnormal oral mucosa morphology |
Abnormality of lining of mouth
|
0011830 |
| Atrioventricular canal defect | 0006695 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Foot |
Duplication of bones of the toes
|
0001829 |
| Genu valgum |
Knock knees
|
0002857 |
| Hand polydactyly |
Extra finger
|
0001161 |
| Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Neonatal short-limb |
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth
[ more ]
|
0008921 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
| 30%-79% of people have these symptoms | ||
| Abnormal oral frenulum morphology | 0000190 | |
| Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
| Aplasia/Hypoplasia of the lungs |
Absent/small lungs
Absent/underdeveloped lungs
[ more ]
|
0006703 |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| Capitate-hamate fusion | 0001241 | |
| Conical incisor |
Cone shaped front tooth
Shark tooth incisor
[ more ]
|
0011065 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Epispadias | 0000039 | |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Hypospadias | 0000047 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Microdontia |
Decreased width of tooth
|
0000691 |
| Situs inversus totalis |
All organs on wrong side of body
|
0001696 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| 5%-29% of people have these symptoms | ||
| Abnormal hair quantity | 0011362 | |
| Abnormal morphology of female internal genitalia | 0000008 | |
| Abnormality of bone marrow |
0005561 | |
| Acute leukemia | 0002488 | |
| Cubitus valgus |
Outward turned elbows
|
0002967 |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Emphysema | 0002097 | |
| Hydroureter | 0000072 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
| Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the alveolar ridges |
Abnormality of gum ridge
|
0006477 |
| Acetabular spurs | 0010454 | |
| 0000007 | ||
| Cleft upper lip |
Harelip
|
0000204 |
| Common atrium | 0011565 | |
| Cone-shaped epiphyses of phalanges 2 to 5 |
Cone-shaped end part of digital bones 2 to 5
|
0006035 |
| Dandy-Walker malformation | 0001305 | |
| Ectodermal dysplasia | 0000968 | |
| Horizontal ribs | 0000888 | |
| Hypoplastic iliac wing | 0002866 | |
| Natal tooth |
Born with teeth
Teeth present at birth
[ more ]
|
0000695 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Postaxial foot polydactyly |
Extra toe attached near the little toe
|
0001830 |
| Postaxial hand polydactyly |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
| Short long bone |
Long bone shortening
|
0003026 |
| Short ribs | 0000773 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
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.
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.
