Stapes ankylosis with broad thumb and toe syndrome

disorder

SNOMED 719305006CUI C1866656

Overview

Stapes ankylosis with broad thumb and toe 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.

Broad big toe

Very frequent (80-99%)HP:0010055

Broad thumbs

Very frequent (80-99%)HP:0011304

Congenital stapes ankylosis

Very frequent (80-99%)HP:0007943

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

Hyperopia

Very frequent (80-99%)HP:0000540

Stapes ankylosis

Very frequent (80-99%)HP:0000381

Distal phalangeal hypoplasia

Frequent (30-79%)HP:0009882

Fused neck

Frequent (30-79%)HP:0002949

Increased nasal height

Frequent (30-79%)HP:0003189

Limited neck range of motion

Frequent (30-79%)HP:0000466

Prominent columella

Frequent (30-79%)HP:0009765

Small nasal alae

Frequent (30-79%)HP:0000430

Syndactyly of feet

Frequent (30-79%)HP:0001770

Fused innermost and middle bones of pinky finger

HP:0009177

Related Conditions

Congenital anomaly of toe(parent)

Autosomal dominant hereditary disorder(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Hearing loss associated with syndrome(parent)

Congenital malformation of thumb(parent)

Ear lesion(parent)

Congenital anomaly of ossicles of ear(parent)

Congenital anomaly of ear with impairment of hearing(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 719305006
UMLS CUI: C1866656
Fully Specified Name: Stapes ankylosis with broad thumb and toe syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.