Rare Endocrinology News
Disease Profile
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
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.
<1 / 1 000 000
Age of onset
Neonatal
ICD-10
Q78.5
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
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Musculoskeletal Diseases;
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2502
Definition
Metaphyseal dysostosisintellectual disability -conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss , associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus . The mode of inheritance is autosomal recessive .
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
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
| Metaphyseal dysostosis | 0005899 | |
| 30%-79% of people have these symptoms | ||
| Antecubital pterygium | 0009760 | |
| Aplasia/Hypoplasia of metatarsal bones |
Absent/small long bone of foot
Absent/underdeveloped long bone of foot
[ more ] |
0001964 |
| Broad femoral metaphyses |
Broad wide portion of thigh bone
|
0006417 |
| Broad foot |
Broad feet
Wide foot
[ more ] |
0001769 |
| Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 |
| Broad phalanx |
Wide digital bones
|
0006009 |
| Broad tibial metaphyses |
Broad wide portion of shankbone
Broad wide portion of shinbone
[ more ] |
0006413 |
| Disproportionate short-limb |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] |
0008873 |
| Equinovarus deformity | 0008110 | |
| Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
| Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
| Long fibula |
Long calf bone
|
0003085 |
| Metaphyseal dysplasia | 0100255 | |
| Narrow iliac wings | 0002868 | |
| Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
| Short femoral neck |
Short neck of thighbone
|
0100864 |
| Short foot |
Short feet
Small feet
[ more ] |
0001773 |
| Short long bone |
Long bone shortening
|
0003026 |
| Short palm | 0004279 | |
| 5%-29% of people have these symptoms | ||
| Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the nail | 0001597 | |
| Anterior polar |
0001134 | |
| 0000007 | ||
|
Short fingers or toes
|
0001156 | |
| Carpal bone hypoplasia |
Small carpal bones
Small carpals
[ more ] |
0001498 |
| Coxa vara | 0002812 | |
| Cupped ribs |
Rib cupping
|
0000887 |
| Flat glenoid fossa | 0000911 | |
| Genu valgum |
Knock knees
|
0002857 |
| Irregular chondrocostal junctions | 0006606 | |
| Irregular iliac crest | 0003796 | |
| Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
| Metaphyseal cupping | 0003021 | |
| Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
| Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
| Obesity |
Having too much body fat
|
0001513 |
| 0002650 | ||
| Short ribs | 0000773 | |
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 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome. Click on the link to view a sample search on this topic.