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Oro-facial digital syndrome type 5

disorder
SNOMED 722105002CUI C1868118

Overview

Oro-facial digital syndrome type 5 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.

Bilateral crossbite
Always present (100%)HP:0000689
Bilateral fifth digit clinodactyly
Always present (100%)HP:0004209
Bilateral tonic-clonic seizure with generalized onset
Always present (100%)HP:0025190
Cutaneous syndactyly of digits
Always present (100%)HP:0012725
Feeding difficulties
Always present (100%)HP:0011968
Generalised-onset seizure
Always present (100%)HP:0002197
Hamartoma of tongue
Always present (100%)HP:0011802
Lobulate tongue
Always present (100%)HP:0000180
Low-set ears
Always present (100%)HP:0000369
Mandibular excess
Always present (100%)HP:0000303
Mental and motor retardation
Always present (100%)HP:0001263
Prominent finger pads
Always present (100%)HP:0001212
Recurrent subcortical infarcts
Always present (100%)HP:0007236
Thick eyebrow
Always present (100%)HP:0000574
Midline cleft lip
Very frequent (80-99%)HP:0000161
Postaxial hand polydactyly
Very frequent (80-99%)HP:0001162
Postaxial hexadactyly
Very frequent (80-99%)HP:0100259
Posterior polydactyly of foot
Very frequent (80-99%)HP:0001830
Abnormality of the philtrum
Frequent (30-79%)HP:0000288
Cleft of palate
Frequent (30-79%)HP:0000175
Convergent squint
Frequent (30-79%)HP:0020045
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Extra oral frenum
Frequent (30-79%)HP:0000191
Frontal protuberance
Frequent (30-79%)HP:0002007
Hearing impairment
Frequent (30-79%)HP:0000365
High arched palate
Frequent (30-79%)HP:0000218
Increased distance between eyes
Frequent (30-79%)HP:0000316
Mental deficiency
Frequent (30-79%)HP:0001249
Optic disc coloboma
Frequent (30-79%)HP:0000588

Related Conditions

Oral-facial-digital syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the integument(parent)
Digestive system hereditary disorder(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
722105002
UMLS CUI
C1868118
Fully Specified Name
Oro-facial digital syndrome type 5 (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.