Orpha Number: 2166
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 | ||
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Hypoplasia of the premaxilla |
Hypoplasia of the primary palate bone
Premaxillary bone deficiency
Primary palate bone deficiency
Small premaxilla
Small primary palate bone
Underdevelopment of the premaxilla
Underdevelopment of the primary palate bone
[ more ]
|
0010650 |
| Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
| 30%-79% of people have these symptoms | ||
| Abnormal cardiac septum morphology | 0001671 | |
| Abnormal lung lobation | 0002101 | |
| Abnormality of the hypothalamus-pituitary axis | 0000864 | |
| Adrenal hypoplasia |
Small adrenal glands
|
0000835 |
| Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
| Anal atresia |
Absent anus
|
0002023 |
| Aplasia/Hypoplasia of the |
0007370 | |
|
Cleft roof of mouth
|
0000175 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Holoprosencephaly | 0001360 | |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypospadias | 0000047 | |
| Low-set, posteriorly rotated ears | 0000368 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Thyroid hypoplasia | 0005990 | |
| 5%-29% of people have these symptoms | ||
| Abnormal localization of kidney |
Abnormal localisation of kidneys
|
0100542 |
| Absent nares |
Missing nostrils
|
0100596 |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Cyclopia |
Cyclops eye
Single central eye
[ more ]
|
0009914 |
| Encephalocele | 0002084 | |
| Intestinal malrotation | 0002566 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Narrow mouth |
Small mouth
|
0000160 |
| Omphalocele | 0001539 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
| Talipes | 0001883 | |
| Umbilical hernia | 0001537 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 11 pairs of ribs | 0000878 | |
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| Abnormality of the respiratory system | 0002086 | |
| Agenesis of corpus callosum | 0001274 | |
| 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 |
| 0000007 | ||
| Bicornuate uterus |
Heart shaped uterus
Heart-shaped uterus
[ more ]
|
0000813 |
| Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
| Complete atrioventricular canal defect | 0001674 | |
| Dextrocardia |
Heart tip and four chambers point towards right side of body
|
0001651 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hemivertebrae |
Missing part of vertebrae
|
0002937 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Median |
Central cleft lip and palate
Midline cleft lip/palate
[ more ]
|
0008501 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Polymicrogyria |
More grooves in brain
|
0002126 |
| Postaxial foot polydactyly |
Extra toe attached near the little toe
|
0001830 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
| Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
| Tricuspid atresia | 0011662 | |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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.
