Deafness with epiphyseal dysplasia and short stature syndrome

disorder

SNOMED 716238003CUI C1832438

Overview

Deafness with epiphyseal dysplasia and short stature 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.

Abnormality of thighbone end part

Very frequent (80-99%)HP:0006499

Deafness

Very frequent (80-99%)HP:0000365

Decreased body height

Very frequent (80-99%)HP:0004322

Abnormal vertebral bodies

Frequent (30-79%)HP:0003312

Inguinal hernia

Frequent (30-79%)HP:0000023

Inverted triangular face

Frequent (30-79%)HP:0000325

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mental retardation, mild

Frequent (30-79%)HP:0001256

Nasolacrimal duct obstruction

Frequent (30-79%)HP:0000579

Near sighted

Frequent (30-79%)HP:0000545

Prominent swayback

Frequent (30-79%)HP:0003307

Short neck

Frequent (30-79%)HP:0000470

Shorter than typical length between neck and abdomen

Frequent (30-79%)HP:0010306

Small pointed chin

Frequent (30-79%)HP:0000307

Umbilical hernia

Frequent (30-79%)HP:0001537

Abnormal vocalization

Occasional (5-29%)HP:0002167

Brachydactyly

Occasional (5-29%)HP:0001156

Frontal protuberance

Occasional (5-29%)HP:0002007

Retinal detachment

Occasional (5-29%)HP:0000541

Related Conditions

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Congenital anomaly of femur(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital sensorineural hearing loss(parent)

Epiphyseal dysplasia(parent)

Congenital dysplasia of lower extremity(parent)

Hereditary hearing loss(parent)

Abnormality of epiphysis morphology of limb(parent)

Quick Facts

SNOMED CT: 716238003
UMLS CUI: C1832438
Fully Specified Name: Deafness with epiphyseal dysplasia and short stature syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.