Orofaciodigital syndrome type 1

disorder

SNOMED 763833006CUI C1510460

Overview

Orofaciodigital syndrome type 1 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.

Broad alveolar processes of jaw

Very frequent (80-99%)HP:0000187

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Disorder of face

Very frequent (80-99%)HP:0000271

Extra oral frenum

Very frequent (80-99%)HP:0000191

Frontal protuberance

Very frequent (80-99%)HP:0002007

High arched palate

Very frequent (80-99%)HP:0000218

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Lobulate tongue

Very frequent (80-99%)HP:0000180

Midline cleft lip

Very frequent (80-99%)HP:0000161

Abnormality of the skull bones

Frequent (30-79%)HP:0000929

Ataxia

Frequent (30-79%)HP:0001251

Cleft of palate

Frequent (30-79%)HP:0000175

Cleft of upper lip

Frequent (30-79%)HP:0000204

Cone-shaped epiphyses

Frequent (30-79%)HP:0010579

Curvature of little finger

Frequent (30-79%)HP:0004209

Decreased bone mineral density Z score

Frequent (30-79%)HP:0004349

Dental anomalies

Frequent (30-79%)HP:0000164

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Epilepsy

Frequent (30-79%)HP:0001250

Finger pointing in a different direction than usual

Frequent (30-79%)HP:0004097

Hamartoma of tongue

Frequent (30-79%)HP:0011802

Lingual nodules

Frequent (30-79%)HP:0000199

Mental-retardation

Frequent (30-79%)HP:0001249

Missing between one and six teeth

Frequent (30-79%)HP:0000668

Partial syndactyly

Frequent (30-79%)HP:0006101

Polycystic kidney dysplasia

Frequent (30-79%)HP:0000113

Polydactyly of the foot

Frequent (30-79%)HP:0001829

Polydactyly of the hand

Frequent (30-79%)HP:0001161

Short toes

Frequent (30-79%)HP:0001831

Small nasal alae

Frequent (30-79%)HP:0000430

Related Conditions

Oral-facial-digital syndrome(parent)

Quick Facts

SNOMED CT: 763833006
UMLS CUI: C1510460
Fully Specified Name: Oro-facial digital syndrome type 1 (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.