metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Findings
No curated finding names metaphyseal dysostosis-intellectual disability-conductive deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized 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.
Definition from the Mondo Disease Ontology (MONDO:0009599), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Antecubital pterygiumHPOHP:0009760
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of metatarsal bonesHPOHP:0001964
- Frequent (30% to 79% of cases)
- Bowing of the legsHPOHP:0002979
- Frequent (30% to 79% of cases)
- Broad footHPOHP:0001769
- Frequent (30% to 79% of cases)
- Broad palm
Show the remaining 14
- Genu varumHPOHP:0002970
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Long fibulaHPOHP:0003085
- Frequent (30% to 79% of cases)
- Metaphyseal dysplasiaHPOHP:0100255
- Frequent (30% to 79% of cases)
- Metaphyseal wideningHPOHP:0003016
- Frequent (30% to 79% of cases)
- Narrow iliac wingHPOHP:0002868
- Frequent (30% to 79% of cases)
Where it sits
- A kind of