Joubert syndrome with orofaciodigital defect

disorder

SNOMED 721873007CUI C2745997

Overview

Joubert syndrome with orofaciodigital defect 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.

Polydactyly affecting the hallux

Always present (100%)HP:0001841

Abnormality of lingual frenum

Frequent (30-79%)HP:0000190

Ataxia

Frequent (30-79%)HP:0001251

Brachydactyly

Frequent (30-79%)HP:0001156

Broad, upturned nose

Frequent (30-79%)HP:0000455

Central hand polydactyly

Frequent (30-79%)HP:0006159

Cleft of palate

Frequent (30-79%)HP:0000175

Cryptorchidism, bilateral

Frequent (30-79%)HP:0008689

Decreased body height

Frequent (30-79%)HP:0004322

Decreased width of the skull

Frequent (30-79%)HP:0004422

Esotropia

Frequent (30-79%)HP:0000565

Extra oral frenum

Frequent (30-79%)HP:0000191

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Finger clinodactyly

Frequent (30-79%)HP:0040019

Frontal protuberance

Frequent (30-79%)HP:0002007

Gait disturbance

Frequent (30-79%)HP:0001288

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Growth deficiency

Frequent (30-79%)HP:0001510

Hamartoma of tongue

Frequent (30-79%)HP:0011802

Hearing loss, conductive

Frequent (30-79%)HP:0000405

High arched palate

Frequent (30-79%)HP:0000218

Hypoplastic mandible condyle

Frequent (30-79%)HP:0000347

Increased distance between eyes

Frequent (30-79%)HP:0000316

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Lobulate tongue

Frequent (30-79%)HP:0000180

Mental-retardation

Frequent (30-79%)HP:0001249

Molar tooth sign

Frequent (30-79%)HP:0002419

Muscular hypotonia

Frequent (30-79%)HP:0001252

Palpebronasal fold

Frequent (30-79%)HP:0000286

Polydactyly, preaxial

Frequent (30-79%)HP:0100258

Related Conditions

Oral-facial-digital syndrome(parent)

Hereditary disorder of the integument(parent)

Joubert syndrome(parent)

Digestive system hereditary disorder(parent)

Quick Facts

SNOMED CT: 721873007
UMLS CUI: C2745997
Fully Specified Name: Joubert syndrome with orofaciodigital defect (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.