Rare Endocrinology News
Disease Profile
Brachial amelia, cleft lip, and holoprosencephaly
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
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ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Brachial amelia, cleft lip, and forebrain defects
Symptoms
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
|
|---|---|---|
| 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 |
Right and left cleft lip and palate
|
0002744 |
|
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 | |
| 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 |
Organizations
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
-
The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations
Texas Scottish Rite Hospital for Children, Department of Neurology
2222 Welborn Street
Dallas, TX 75219-3993
Toll-free: (800) 421-1121
Telephone: (214) 559-8411
E-mail: hpe@tsrh.org
Website: https://www.hperesearch.org/index.html
Learn more
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.