National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Brachial amelia, cleft lip, and holoprosencephaly


Other Names:
Brachial amelia, cleft lip, and forebrain defects

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.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Coloboma
Notched pupil
0000589
Foot oligodactyly
Missing toes
0001849
Percent of people who have these symptoms is not available through HPO
Absent septum pellucidum 0001331
Amelia 0009827
Anterior encephalocele 0007035
Bilateral cleft lip and palate
Right and left cleft lip and palate
0002744
Congenital onset
Symptoms present at birth
0003577
Facial cleft
Cleft of the face
0002006
Holoprosencephaly 0001360
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Omphalocele 0001539
Scoliosis 0002650
Short femur
Short thighbone
0003097
Sporadic
No previous family history
0003745
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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Last updated: 7/1/2020

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.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Brachial amelia, cleft lip, and holoprosencephaly. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Brachial amelia, cleft lip, and holoprosencephaly:
    The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations
     

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.

Organizations Supporting this 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.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 

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.