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||
|80%-99% of people have these symptoms|
|Aplasia/Hypoplasia of the lungs||
Absent/underdeveloped lungs[ more ]
High levels of amniotic fluid
Premature delivery of affected infants
Preterm delivery[ more ]
Narrowing of windpipe
|30%-79% of people have these symptoms|
|Abnormal cardiac septum morphology||0001671|
|Aplasia/Hypoplasia of the radius||0006501|
Abnormal kidney location
Displaced kidney[ more ]
Softening of voice box tissue
Missing kidney[ more ]
|Vertebral segmentation defect||0003422|
|5%-29% of people have these symptoms|
|Abnormal sacrum morphology||0005107|
|Abnormality of female internal genitalia||0000008|
|Abnormality of the gallbladder||0005264|
|Abnormality of the intervertebral disk||0005108|
|Abnormality of the pancreas||0001732|
|Abnormality of the ribs||
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia[ more ]
Cleft of scrotum
Collection of dilated blood vessels that forms mass
Cleft roof of mouth
Undescended testis[ more ]
|Hypoplasia of penis||
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
|Low-set, posteriorly rotated ears||0000368|
|Multicystic kidney dysplasia||0000003|
Brain tissue sticks out through back of skull
|Single umbilical artery||
Only one artery in umbilical cord instead of two
|Percent of people who have these symptoms is not available through HPO|
|Abnormal vertebral morphology||0003468|
|Abnormality of the nasopharynx||0001739|
|Abnormality of the sternum||
Missing outer large bone of forearm
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity[ more ]
|Failure to thrive||
Weight faltering[ more ]
|Hypoplasia of the radius||
Underdeveloped outer large forearm bone
|Patent ductus arteriosus||0001643|
|Postnatal growth retardation||
Growth delay as children
Fused forearm bones
Abnormal curving of the spine
Small thumbs[ more ]
No previous family history
Webbed fingers or toes
|Tetralogy of Fallot||0001636|
|Transposition of the great arteries||0001669|
|Ureteropelvic junction obstruction||0000074|
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Baller-Gerold syndrome, CHARGE syndrome, Currarino disease, 22q11.2 microdeletion syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral sprectrum, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus (see these terms).
Visit the Orphanet disease page for more information.
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.
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
My granddaughter was born with VACTERL association. She had no anus, 3 small holes in her heart, clubbed feet, 1 abnormal kidney, one missing kidney, a spinal abnormality, and hip dysplasia. What is prognosis for a child with this condition? See answer
My brother was born with VACTERL association. My wife is pregnant, and I am concerened about my family history. Is there a genetic component to this condition and is it possible I also have this genetic component, even though I'm healthy? Is there special testing my wife can have during the pregnancy to know if our fetus may have it? See answer