Aural atresia with multiple congenital anomalies and intellectual disability syndrome

disorder

SNOMED 720748007CUI C4303864

Overview

Aural atresia with multiple congenital anomalies and intellectual disability 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 the middle ear

Very frequent (80-99%)HP:0000370

Anteriorly displaced anus

Very frequent (80-99%)HP:0001545

Attachment of thumb close to wrist

Very frequent (80-99%)HP:0009623

Dull intelligence

Very frequent (80-99%)HP:0001249

External auditory meatal atresia

Very frequent (80-99%)HP:0000413

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

Hypotrophic malar bone

Very frequent (80-99%)HP:0000272

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Short and broad skull

Very frequent (80-99%)HP:0000248

VSD

Very frequent (80-99%)HP:0001629

Abnormal dermatoglyphics

Frequent (30-79%)HP:0007477

Abnormality of the hips

Frequent (30-79%)HP:0003272

Central hypotonia

Frequent (30-79%)HP:0001252

Decreased body height

Frequent (30-79%)HP:0004322

Decreased bone mineral density Z score

Frequent (30-79%)HP:0004349

Diaphragmatic hernia

Frequent (30-79%)HP:0000776

Loose-jointedness

Frequent (30-79%)HP:0001382

Missing ribs

Frequent (30-79%)HP:0000921

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Respiratory function loss

Frequent (30-79%)HP:0002093

Rib anomalies

Frequent (30-79%)HP:0000772

Scoliosis

Frequent (30-79%)HP:0002650

Squint

Frequent (30-79%)HP:0000486

Umbilical hernia

Frequent (30-79%)HP:0001537

Related Conditions

Congenital atresia of external auditory canal(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Auditory system hereditary disorder(parent)

Cardiovascular system hereditary disorder(parent)

Congenital ventricular septal defect(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 720748007
UMLS CUI: C4303864
Fully Specified Name: Aural atresia with multiple congenital anomalies and intellectual disability 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.