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 the radius | 0002818 | |
| Abnormality of the spleen | 0001743 | |
| Esophagitis |
Inflammation of the esophagus
|
0100633 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| Hiatus hernia |
Stomach hernia
|
0002036 |
| Microgastria | 0100841 | |
| Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the humerus | 0003063 | |
| Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
| 0005988 | ||
| Frontal bossing | 0002007 | |
| Multicystic kidney dysplasia | 0000003 | |
| Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Renal dysplasia | 0000110 | |
| 5%-29% of people have these symptoms | ||
| Abnormal cortical gyration | 0002536 | |
| Abnormal lung lobation | 0002101 | |
| Absent hand | 0004050 | |
| Absent septum pellucidum | 0001331 | |
| Agenesis of |
0001274 | |
| Amelia | 0009827 | |
| Anal atresia |
Absent anus
|
0002023 |
| Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ]
|
0000528 |
| Aplastic clavicle |
Absent collarbone
|
0006660 |
| Arrhinencephaly | 0002139 | |
| 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 |
| Crossed fused renal ectopia | 0004736 | |
| Ectrodactyly |
Cleft hand
Lobster claw hand
[ more ]
|
0100257 |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
| Esophageal atresia |
Birth defect in which part of esophagus did not develop
|
0002032 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
| Intestinal malrotation | 0002566 | |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Oligodactyly | 0012165 | |
| Perineal fistula | 0004871 | |
| Phocomelia | 0009829 | |
| Rectal atresia | 0025023 | |
| Rectovaginal fistula |
Abnormal connection between rectum and vagina
|
0000143 |
| Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
| Tracheoesophageal fistula | 0002575 | |
| Truncus arteriosus | 0001660 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Absent gallbladder | 0011467 | |
| Absent thumb |
Absent thumbs
|
0009777 |
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
| Asplenia |
Absent spleen
|
0001746 |
| Bicornuate uterus |
Heart shaped uterus
Heart-shaped uterus
[ more ]
|
0000813 |
| Biliary tract abnormality | 0001080 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Cystic renal dysplasia | 0000800 | |
| Fusion of the left and right thalami | 0010664 | |
| Hand oligodactyly |
Hand has less than 5 fingers
|
0001180 |
| Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
| Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
| 0000125 | ||
| Polymicrogyria |
More grooves in brain
|
0002126 |
| Porencephalic cyst |
Cavity within brain
|
0002132 |
| Secundum atrial septal defect | 0001684 | |
| Splenogonadal fusion | 0025410 | |
| Sporadic |
No previous family history
|
0003745 |
| Type I truncus arteriosus | 0004384 | |
| Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ]
|
0000122 |
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. Submit a new question
Where can I find more information about this syndrome? My daughter has it. Is there any group for parents of children with this? See answer
