JDVS - Jansen-de Vries syndrome

disorder

SNOMED 1351655009CUI C4479517

Overview

JDVS - Jansen-de Vries 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.

Hyperacusis

Always present (100%)HP:0010780

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Disproportionately small hands

Very frequent (80-99%)HP:0200055

Poor school performance

Very frequent (80-99%)HP:0001249

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Small feet

Very frequent (80-99%)HP:0001773

Decreased body height

Frequent (30-79%)HP:0004322

Dyschezia

Frequent (30-79%)HP:0002019

Feeding difficulties

Frequent (30-79%)HP:0011968

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Hyperopia

Frequent (30-79%)HP:0000540

Increased width of the forehead

Frequent (30-79%)HP:0000337

Large mouth

Frequent (30-79%)HP:0000154

Low-set ears

Frequent (30-79%)HP:0000369

Nostrils anteverted

Frequent (30-79%)HP:0000463

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Predisposition to infections

Frequent (30-79%)HP:0002719

Prominent swayback

Frequent (30-79%)HP:0003307

Small nail

Frequent (30-79%)HP:0001792

Squint

Frequent (30-79%)HP:0000486

Wide based walk

Frequent (30-79%)HP:0002136

ASD

Occasional (5-29%)HP:0000729

Bicuspid aortic valve

Occasional (5-29%)HP:0001647

Central diaphragmatic hernia

Occasional (5-29%)HP:0025195

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Excessive, persistent worry and fear

Occasional (5-29%)HP:0000739

Laryngomalacia

Occasional (5-29%)HP:0001601

OCD

Occasional (5-29%)HP:0000722

Persistent foramina of the parietal bones

Occasional (5-29%)HP:0002697

VSD

Occasional (5-29%)HP:0001629

Related Conditions

Neurodevelopmental disorder(parent)

Genetic disease(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 1351655009
UMLS CUI: C4479517
Fully Specified Name: Jansen-de Vries 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.