Autosomal dominant deafness with onychodystrophy syndrome

disorder

SNOMED 1208614008CUI C2675730

Overview

Autosomal dominant deafness with onychodystrophy 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.

Aplasia of the middle phalanx of the 5th finger

Always present (100%)HP:0009162

Bilateral digitalized thumb

Always present (100%)HP:0005707

Bilateral nerve deafness

Always present (100%)HP:0008619

Dystrophic nails

Always present (100%)HP:0008404

Sensorineural deafness

Always present (100%)HP:0000407

Small nail

Always present (100%)HP:0001792

Anonychia of fingernails

Very frequent (80-99%)HP:0001817

Severe sensorineural deafness

Very frequent (80-99%)HP:0008625

Absent toenails (anonychia)

Frequent (30-79%)HP:0001802

Aplasia/Hypoplasia of the nails

Frequent (30-79%)HP:0008386

Dental problems

Frequent (30-79%)HP:0000164

Partial anodontia

Frequent (30-79%)HP:0000677

Absence of a tooth

Occasional (5-29%)HP:0001592

Absent fifth fingernail

Occasional (5-29%)HP:0200104

Absent thumbnail

Occasional (5-29%)HP:0012554

Aplasia cutis congenita

Occasional (5-29%)HP:0001057

Dropped arches

Occasional (5-29%)HP:0001763

Epilepsy

Occasional (5-29%)HP:0001250

High forehead

Occasional (5-29%)HP:0000348

Hypoplastic toenails

Occasional (5-29%)HP:0001800

Malformation of face

Occasional (5-29%)HP:0001999

Narrow head shape

Occasional (5-29%)HP:0000268

Nonprogressive mental retardation

Occasional (5-29%)HP:0001249

Peg-shaped teeth

Occasional (5-29%)HP:0000698

Poor speech

Occasional (5-29%)HP:0002465

Small, conical teeth

Occasional (5-29%)HP:0200141

Thumb hypoplasia

Occasional (5-29%)HP:0009778

Triphalangy of thumb

Occasional (5-29%)HP:0001199

Brachydactyly

HP:0001156

Hidrotic ectodermal dysplasia

HP:0007529

Related Conditions

Autosomal dominant hereditary disorder(parent)

Deafness with onychodystrophy syndrome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 1208614008
UMLS CUI: C2675730
Fully Specified Name: Autosomal dominant deafness with onychodystrophy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.