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 | ||
| Cachexia |
Wasting syndrome
|
0004326 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
| 0001363 | ||
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Mild global |
0011342 | |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
| Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
|
0001852 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
| Absent earlobe |
Earlobe, absent
Lobeless ears
[ more ]
|
0000387 |
| Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| 0000501 | ||
| Hip dysplasia | 0001385 | |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Reduced number of teeth |
Decreased tooth count
|
0009804 |
| Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
| 5%-29% of people have these symptoms | ||
| Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ]
|
0000086 |
| 0002650 | ||
| 1%-4% of people have these symptoms | ||
| High pitched voice | 0001620 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 11 pairs of ribs | 0000878 | |
| Abnormal finger flexion creases | 0006143 | |
| Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
| Abnormally large globe |
Increased size of eyes
Large eyes
[ more ]
|
0001090 |
| 0000007 | ||
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Cerebellar vermis hypoplasia | 0001320 | |
|
Cleft roof of mouth
|
0000175 | |
| Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
| Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
| Dislocated radial head | 0003083 | |
| Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Few cafe-au-lait spots | 0007429 | |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| Heart murmur |
Heart murmurs
|
0030148 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
| Hyperactivity |
More active than typical
|
0000752 |
| Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
| Hypoplasia of proximal fibula |
Small innermost upper end of calf bone
Underdeveloped innermost upper end of calf bone
[ more ]
|
0006442 |
| Hypoplasia of proximal radius | 0006434 | |
| Hypospadias | 0000047 | |
| Ivory epiphyses |
Increased bone density in end part of bone
|
0010583 |
| Large basal ganglia | 0007048 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Microdontia |
Decreased width of tooth
|
0000691 |
| Microglossia |
Abnormally small tongue
Underdevelopment of the tongue
[ more ]
|
0000171 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
| Pancytopenia |
Low blood cell count
|
0001876 |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Proportionate short stature | 0003508 | |
| 0001250 | ||
| Selective tooth agenesis | 0001592 | |
| Single transverse palmar crease | 0000954 | |
| Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
| Small anterior fontanelle | 0000237 | |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Talipes | 0001883 | |
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
