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Disease Profile
Geleophysic dwarfism
Prevalence
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.
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
Childhood
ICD-10
Q87.1
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)
Geleophysic dysplasia
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2623
Definition
A rare skeletal dysplasia characterized by short stature , prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').
Epidemiology
Fewer than 30 cases have been reported to date.
The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip. Additional clinical features include progressive cardiac valvular thickening often leading to an early death, contractions of the gastrocnemius muscle and Achilles tendon leading to tip toe walking, tracheal stenosis, bronchopulmonary insufficiency, and liver enlargement. Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies.
Transmission is autosomal recessive in the cases with ADAMTSL2 gene mutations and autosomal dominant in the cases with FBN1 mutations.
Visit the Orphanet disease page for more resources.
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
|
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| 0000007 | ||
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
| Coxa valga | 0002673 | |
| Global |
0001263 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| High pitched voice | 0001620 | |
| Hypoplasia of the capital femoral epiphysis |
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part
[ more ] |
0003090 |
| Irregular capital femoral epiphysis |
Irregular end part of innermost thighbone
|
0005041 |
| Joint |
0009473 | |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
| J-shaped sella turcica | 0002680 | |
| Lack of skin elasticity | 0100679 | |
| Long philtrum | 0000343 | |
| Mitral stenosis | 0001718 | |
| Osteopenia | 0000938 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
| 0001250 | ||
| Short foot |
Short feet
Small feet
[ more ] |
0001773 |
| Short long bone |
Long bone shortening
|
0003026 |
| Short metacarpals with rounded proximal ends |
Short long bone of hand with rounded innermost ends
|
0006161 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
| Short palm | 0004279 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Small nail |
Small nails
|
0001792 |
| Smooth philtrum | 0000319 | |
| Thickened helices | 0000391 | |
| Thickened skin |
Thick skin
|
0001072 |
| Tracheal stenosis |
Narrowing of windpipe
|
0002777 |
| Tricuspid stenosis | 0010446 | |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
| Wrist flexion contracture | 0001239 | |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Geleophysic dwarfism. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Geleophysic dwarfism. Click on the link to view a sample search on this topic.