Velocardiofacial syndrome

disorder

SNOMED 767263007CUI C0220704

Overview

Velocardiofacial syndrome is a disorder. There are currently 3 actively recruiting clinical trials.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Clinical Trials

Total Trials

Recruiting

With Results

Recent Trials

The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome

NCT00768820Phase 4Recruiting400 enrolled

Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)

NCT07284641Phase 2Recruiting25 enrolled

Immune Disorder HSCT Protocol

NCT01821781Phase 2Active Not Recruiting20 enrolled

View all 3 trials on ClinicalTrials.gov

Signs & Symptoms

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

Velopharyngeal incompetence

Always present (100%)HP:0000220

Abnormal pulmonary valve morphology

Very frequent (80-99%)HP:0001641

Abnormality of cardiovascular system morphology

Very frequent (80-99%)HP:0030680

Abnormality of the aortic arch

Very frequent (80-99%)HP:0012303

Abnormality of the pharynx

Very frequent (80-99%)HP:0000600

Atria septal defect

Very frequent (80-99%)HP:0001631

Bulbous nose

Very frequent (80-99%)HP:0000414

Central hypotonia

Very frequent (80-99%)HP:0001252

Cleft of palate

Very frequent (80-99%)HP:0000175

Difficulty finding words

Very frequent (80-99%)HP:0002381

Dysmorphic facies

Very frequent (80-99%)HP:0001999

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

Immune deficiency

Very frequent (80-99%)HP:0002721

Increased basal angle of skull base

Very frequent (80-99%)HP:0002691

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Low-set ears

Very frequent (80-99%)HP:0000369

Mongoloid slant

Very frequent (80-99%)HP:0000582

Nasal speech

Very frequent (80-99%)HP:0001611

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Prominent nasal root

Very frequent (80-99%)HP:0000426

Tetrology of fallot

Very frequent (80-99%)HP:0001636

Thymic hypoplasia

Very frequent (80-99%)HP:0000778

Truncus arteriosus

Very frequent (80-99%)HP:0001660

VSD

Very frequent (80-99%)HP:0001629

Abnormality of the eyelids

Frequent (30-79%)HP:0000492

Abnormality of the skull bones

Frequent (30-79%)HP:0000929

Abnormality of the tonsils

Frequent (30-79%)HP:0100765

Anorectal anomaly

Frequent (30-79%)HP:0012732

Arachnodactyly

Frequent (30-79%)HP:0001166

Related Conditions

Multiple system malformation syndrome(parent)

22q partial monosomy(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 767263007
UMLS CUI: C0220704
Fully Specified Name: 22q11.2 deletion syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Clinical Trials: 3

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.