Microphthalmia, cataract, radiculomegaly and septal heart defect

disorder

SNOMED 699300009CUI C1846265

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Camptodactyly of the 3rd toe

Always present (100%)HP:0100349

Contracture of the proximal interphalangeal joint of the 2nd toe

Always present (100%)HP:0100348

Delayed loss of deciduous teeth

Always present (100%)HP:0006335

Abnormally small eyeball

Very frequent (80-99%)HP:0000568

Cataract, congenital

Very frequent (80-99%)HP:0000519

Decreased corneal diameter

Very frequent (80-99%)HP:0000482

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Heart septal defect

Very frequent (80-99%)HP:0001671

Lens opacities

Very frequent (80-99%)HP:0000518

Notched tip of nose

Very frequent (80-99%)HP:0000456

Tooth abnormalities

Very frequent (80-99%)HP:0000164

Abnormal palate morphology

Frequent (30-79%)HP:0000174

Abnormality of position of teeth

Frequent (30-79%)HP:0000692

Atria septal defect

Frequent (30-79%)HP:0001631

Broad big toe

Frequent (30-79%)HP:0010055

Broad palm

Frequent (30-79%)HP:0001169

Broad, upturned nose

Frequent (30-79%)HP:0000455

Cleft of palate

Frequent (30-79%)HP:0000175

Convex bridge of nose

Frequent (30-79%)HP:0000426

Cutaneous 2,3 toe syndactyly

Frequent (30-79%)HP:0005709

Flexion contracture of the 2nd toe

Frequent (30-79%)HP:0010327

Flexion contracture of the 4th toe

Frequent (30-79%)HP:0010339

Fused forearm bones

Frequent (30-79%)HP:0002974

Hammertoe

Frequent (30-79%)HP:0001765

Increased length of philtrum

Frequent (30-79%)HP:0000343

Mental retardation, mild

Frequent (30-79%)HP:0001256

Missing more than six teeth

Frequent (30-79%)HP:0000677

partial or complete syndactyly 2nd-3rd toes

Frequent (30-79%)HP:0004691

Root gigantism

Frequent (30-79%)HP:0033189

Space between great toe and second toe

Frequent (30-79%)HP:0001852

Related Conditions

Multiple system malformation syndrome(parent)

Developmental hereditary disorder(parent)

X-linked dominant hereditary disease(parent)

Quick Facts

SNOMED CT: 699300009
UMLS CUI: C1846265
Fully Specified Name: Oculofaciocardiodental 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.