Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

disorder

SNOMED 733419006CUI C4518775

Overview

Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Absent or hypoplastic metatarsal

Frequent (30-79%)HP:0001964

Bowed lower limbs

Frequent (30-79%)HP:0002979

Broad foot

Frequent (30-79%)HP:0001769

Broad palm

Frequent (30-79%)HP:0001169

Broad tibial metaphyses

Frequent (30-79%)HP:0006413

Dwarfism, short-limbed

Frequent (30-79%)HP:0008873

Equinovarus deformity

Frequent (30-79%)HP:0008110

Genua vara

Frequent (30-79%)HP:0002970

Hypoplastic femoral neck

Frequent (30-79%)HP:0100864

Hypoplastic hands

Frequent (30-79%)HP:0004279

Joint ligamentous laxity

Frequent (30-79%)HP:0001382

Long fibula

Frequent (30-79%)HP:0003085

Metaphyseal dysplasia

Frequent (30-79%)HP:0100255

Narrow iliac wing

Frequent (30-79%)HP:0002868

Recurrent middle ear infection

Frequent (30-79%)HP:0000403

shortened long tubular bones

Frequent (30-79%)HP:0003026

Small feet

Frequent (30-79%)HP:0001773

Splayed metaphyses

Frequent (30-79%)HP:0003015

Webbed elbow

Frequent (30-79%)HP:0009760

Wide femoral metaphysis

Frequent (30-79%)HP:0006417

Widened metaphyses

Frequent (30-79%)HP:0003016

Widened phalanges

Frequent (30-79%)HP:0006009

Hyperopia

Occasional (5-29%)HP:0000540

Squint

Occasional (5-29%)HP:0000486

Related Conditions

Metaphyseal chondrodysplasia(parent)

Conductive hearing loss(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital hearing disorder(parent)

Hearing loss associated with syndrome(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 733419006
UMLS CUI: C4518775
Fully Specified Name: Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.