OFD18 - oral-facial-digital syndrome type 18

disorder

SNOMED 1177179002CUI C5567903

Overview

OFD18 - oral-facial-digital syndrome type 18 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.

Brachydactyly

HP:0001156

Broad flat nasal bridge

HP:0000431

Cervical ribs

HP:0000891

Cleft lip

HP:0410030

Convex bridge of nose

HP:0000426

Decreased body height

HP:0004322

Decreased height of philtrum

HP:0000322

Decreased size of frontal region of face

HP:0000350

Delayed skeletal development

HP:0002750

Distal phalangeal hypoplasia

HP:0009882

Extra oral frenum

HP:0000191

Gaps between teeth

HP:0000699

Genu valga

HP:0002857

Mongoloid slant

HP:0000582

Polydactyly, preaxial

HP:0100258

Postaxial hexadactyly

HP:0100259

Short middle phalanx of finger

HP:0005819

Single flexion crease

HP:0000954

Space between great toe and second toe

HP:0001852

Square facies

HP:0000321

Urinary incontinence

HP:0000020

Related Conditions

Brachymesophalangia(parent)

Small stature(parent)

Oral-facial-digital syndrome(parent)

Quick Facts

SNOMED CT: 1177179002
UMLS CUI: C5567903
Fully Specified Name: Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.