The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Aplasia/Hypoplasia of the lungs||90%|
|Abnormal localization of kidney||50%|
|Abnormality of the cardiac septa||50%|
|Aplasia/Hypoplasia of the radius||50%|
|Congenital diaphragmatic hernia||50%|
|Vertebral segmentation defect||50%|
|Abnormality of female internal genitalia||7.5%|
|Abnormality of the fontanelles or cranial sutures||7.5%|
|Abnormality of the gallbladder||7.5%|
|Abnormality of the intervertebral disk||7.5%|
|Abnormality of the pancreas||7.5%|
|Abnormality of the ribs||7.5%|
|Abnormality of the sacrum||7.5%|
|Displacement of the external urethral meatus||7.5%|
|Hypoplasia of penis||7.5%|
|Intrauterine growth retardation||7.5%|
|Low-set, posteriorly rotated ears||7.5%|
|Multicystic kidney dysplasia||7.5%|
|Non-midline cleft lip||7.5%|
|Preaxial hand polydactyly||7.5%|
|Single umbilical artery||7.5%|
|Abnormality of the nasopharynx||-|
|Abnormality of the sternum||-|
|Failure to thrive||-|
|Hypoplasia of the radius||-|
|Patent ductus arteriosus||-|
|Postnatal growth retardation||-|
|Tetralogy of Fallot||-|
|Transposition of the great arteries||-|
|Ureteropelvic junction obstruction||-|
|Ventricular septal defect||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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