Orpha Number: 2083
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 hair pattern |
Abnormal distribution of hair
|
0010720 |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Global |
0001263 | |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
| Hypertonia | 0001276 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Macrotia |
Large ears
|
0000400 |
|
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 | |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent glabella |
Prominent area between the eyebrows
Protruding area between the eyebrows
[ more ]
|
0002057 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| 0001250 | ||
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the voice |
Voice abnormality
|
0001608 |
| Bilateral single transverse palmar creases | 0007598 | |
|
Short fingers or toes
|
0001156 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Hydronephrosis | 0000126 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
|
0000474 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
| Ventriculomegaly | 0002119 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| Frontal upsweep of hair |
Cowlick
Frontal Cowlick
Upswept frontal hair
[ more ]
|
0002236 |
| Hypoplastic male external genitalia |
Small male external genitalia
Underdeveloped male genitalia
[ more ]
|
0000050 |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
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.
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.
