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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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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
Intellectual disability, mild
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 stature
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
Strabismus
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 cataract
0001134
Autosomal recessive inheritance
0000007
Brachydactyly
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
Scoliosis
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.