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Disease Profile
Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
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.
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Age of onset
All ages
ICD-10
-
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)
Forney Robinson Pascoe syndrome; Congenital heart disease, deafness, and skeletal malformations; Cardiospondylocarpofacial syndrome
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases
Summary
Orpha Number: 3238
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Short fingers or toes
|
0001156 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
Mitral regurgitation | 0001653 | |
Mitral valve prolapse | 0001634 | |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Short palm | 0004279 | |
Synostosis of carpal bones |
Fusion of wrist bones
|
0005048 |
30%-79% of people have these symptoms | ||
Failure of eruption of permanent teeth | 0006352 | |
Misalignment of teeth |
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth
[ more ] |
0000692 |
5%-29% of people have these symptoms | ||
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 |
Abnormality of the eye |
Abnormal eye
|
0000478 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
0000006 | ||
Carpal synostosis | 0009702 | |
Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
0008527 | ||
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Freckling | 0001480 | |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Fused cervical vertebrae |
Fused neck
|
0002949 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Long philtrum | 0000343 | |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Pseudoepiphyses | 0010584 | |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Rib fusion |
Fused ribs
|
0000902 |
0002650 | ||
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Synostosis of carpals/tarsals |
Wrist bone/ankle bone fusions
|
0100266 |
Tarsal synostosis |
Fused ankle bones
|
0008368 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Vesicoureteral reflux | 0000076 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
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
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones. Click on the link to view a sample search on this topic.