Congenital deafness with inner ear agenesis, microtia, and microdontia

disorder

SNOMED 702360007CUI C1853144

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Delayed gross motor development

Always present (100%)HP:0002194

Microtia, first degree

Always present (100%)HP:0011266

Profound sensorineural hearing impairment

Always present (100%)HP:0011476

Abnormality of the cranial nerves

Very frequent (80-99%)HP:0001291

Anteverted ears

Very frequent (80-99%)HP:0040080

Aplasia of the labyrinth

Very frequent (80-99%)HP:0011372

Hearing impairment

Very frequent (80-99%)HP:0000365

Microtia

Very frequent (80-99%)HP:0008551

Peg-shaped teeth

Very frequent (80-99%)HP:0000698

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Tooth hypotrophy

Very frequent (80-99%)HP:0000691

Wide-spaced teeth

Very frequent (80-99%)HP:0000687

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Jugular foramen stenosis

Frequent (30-79%)HP:6000376

Small nasal alae

Frequent (30-79%)HP:0000430

Small pointed chin

Frequent (30-79%)HP:0000307

Vertical enlargement of face

Frequent (30-79%)HP:0000276

Accelerated linear growth

Occasional (5-29%)HP:0000098

High-grade hypermetropia

Occasional (5-29%)HP:0008499

Hyperplasia of nose

Occasional (5-29%)HP:0000448

Increased distance between eyes

Occasional (5-29%)HP:0000316

Increased tooth count

Occasional (5-29%)HP:0011069

Missing between one and six teeth

Occasional (5-29%)HP:0000668

Skin tags

Occasional (5-29%)HP:0010609

Squint

Occasional (5-29%)HP:0000486

Unibrow

Occasional (5-29%)HP:0000664

Peg-shaped maxillary lateral incisors

HP:0006342

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Microdontia(parent)

Microtia(parent)

Multiple system malformation syndrome(parent)

Congenital deafness(parent)

Hearing loss associated with syndrome(parent)

Congenital anomaly of ear with impairment of hearing(parent)

Congenital anomaly of inner ear(parent)

Congenital anomaly of tooth(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of tooth(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 702360007
UMLS CUI: C1853144
Fully Specified Name: Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.