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 | ||
| Abnormality of tibia morphology |
Abnormality of the shankbone
Abnormality of the shinbone
[ more ]
|
0002992 |
| Aplasia of the ulna | 0003982 | |
| Aplasia/Hypoplasia involving the pelvis | 0009103 | |
| Aplasia/hypoplasia of the femur |
Absent/small thighbone
Absent/underdeveloped thighbone
[ more ]
|
0005613 |
| Aplasia/Hypoplasia of the sacrum |
Absent/small sacrum
Absent/underdeveloped sacrum
[ more ]
|
0008517 |
| Disproportionate |
0003498 | |
| Ectrodactyly |
Cleft hand
Lobster claw hand
[ more ]
|
0100257 |
| Fibular aplasia |
Absent calf bone
|
0002990 |
| Foot oligodactyly |
Missing toes
|
0001849 |
| Hand oligodactyly |
Hand has less than 5 fingers
|
0001180 |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| 30%-79% of people have these symptoms | ||
| Aplasia of the uterus |
Absent uterus
uterus absent
[ more ]
|
0000151 |
| Aplasia/Hypoplasia involving the carpal bones |
Absent/small wrist bones
Absent/underdeveloped wrist bones
[ more ]
|
0006502 |
| Aplasia/Hypoplasia involving the metacarpal bones |
Absent/small long bones of hand
Absent/underdeveloped long bones of hand
[ more ]
|
0005914 |
| Aplasia/Hypoplasia of metatarsal bones |
Absent/small long bone of foot
Absent/underdeveloped long bone of foot
[ more ]
|
0001964 |
| Aplasia/Hypoplasia of the phalanges of the hand | 0009767 | |
| Aplasia/Hypoplasia of the phalanges of the toes |
Absent/small toe bones
Absent/underdeveloped toe bones
[ more ]
|
0010173 |
| Aplasia/Hypoplasia of the pubic bone |
Absent/small pubic bones
Absent/underdeveloped pubic bones
Hypoplastic/aplastic pubic bones
[ more ]
|
0009104 |
| Aplasia/Hypoplasia of the tarsal bones |
Absent/small ankle bone
Absent/underdeveloped ankle bone
[ more ]
|
0008363 |
| Elbow ankylosis | 0003070 | |
| Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
| Femoral bowing |
Bowed thighbone
|
0002980 |
| Humeroradial synostosis |
Fusion of upper and lower arm bones
|
0003041 |
| Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Phocomelia | 0009829 | |
| Radial bowing |
Bowing of outer large bone of the forearm
|
0002986 |
| Short neck |
Decreased length of neck
|
0000470 |
| Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
| 5%-29% of people have these symptoms | ||
| Anal atresia |
Absent anus
|
0002023 |
| Calvarial skull defect |
Cranial defect
Skull defect
[ more ]
|
0001362 |
|
Cleft roof of mouth
|
0000175 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
| Hydrops fetalis | 0001789 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Meningocele | 0002435 | |
| Occipital meningocele | 0002436 | |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Talipes | 0001883 | |
| Tracheoesophageal fistula | 0002575 | |
| 1%-4% of people have these symptoms | ||
| Anteriorly displaced genitalia | 0003252 | |
| Barrel-shaped chest |
Barrel chest
|
0001552 |
| Broad clavicles |
Broad collarbone
|
0000916 |
| Broad neck |
Increased width of neck
Wide neck
[ more ]
|
0000475 |
| Broad ribs |
Wide ribs
|
0000885 |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
| Prominent sternum | 0000884 | |
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| Percent of people who have these symptoms is not available through HPO | ||
| Anonychia |
Absent nails
Aplastic nails
[ more ]
|
0001798 |
| Aplastic pubic bones |
Absent pubic bones
|
0008817 |
| 0000007 | ||
| Carpal bone aplasia | 0004231 | |
| 0006585 | ||
| Decreased calvarial ossification |
Soft skullcap
|
0005474 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Hemivertebrae |
Missing part of vertebrae
|
0002937 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypoplastic nipples |
Small nipples
|
0002557 |
| Hypospadias | 0000047 | |
| Long ear |
Long ears
|
0400004 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Narrow palate |
Narrow roof of mouth
|
0000189 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pilonidal sinus | 0010769 | |
| 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 ]
|
0000431 |
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.
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.
