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 | ||
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
| Webbed neck |
Neck webbing
|
0000465 |
| 30%-79% of people have these symptoms | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
|
0100840 |
| Deep philtrum | 0002002 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
| Macrotia |
Large ears
|
0000400 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
| 5%-29% of people have these symptoms | ||
| Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
| Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
| Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
| Abnormality of the intervertebral disk | 0005108 | |
|
Short fingers or toes
|
0001156 | |
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Deep palmar crease |
Deep palm line
|
0006191 |
| Eczema | 0000964 | |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
| Ichthyosis | 0008064 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ]
|
0000527 |
| Nasal speech |
Nasal voice
|
0001611 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| 1%-4% of people have these symptoms | ||
| Keratosis pilaris | 0032152 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 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 |
| 0000006 | ||
| Hyperactivity |
More active than typical
|
0000752 |
| Loose anagen hair | 0040169 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Short neck |
Decreased length of neck
|
0000470 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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.
