Oro-facial digital syndrome type 8

disorder

SNOMED 722106001CUI C0796101

Overview

Oro-facial digital syndrome type 8 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.

Bifid tip of nose

HP:0000456

Broad, upturned nose

HP:0000455

Cleft of palate

HP:0000175

Cognitive delay

HP:0001263

Decreased body height

HP:0004322

Hamartoma

HP:0010566

High arched palate

HP:0000218

Hypoplasia of the epiglottis

HP:0005349

Increased distance between eyes

HP:0000316

Increased intercanthal distance

HP:0000506

Midline cleft lip

HP:0000161

Milia

HP:0001056

Polydactyly

HP:0010442

Recurrent aspiration pneumonia

HP:0002100

Short skankbone

HP:0005736

Squint

HP:0000486

Syndactyly

HP:0001159

Related Conditions

Oral-facial-digital syndrome(parent)

Hereditary disorder of the integument(parent)

Digestive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722106001
UMLS CUI: C0796101
Fully Specified Name: Oro-facial digital syndrome type 8 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.