Oto-palato-digital syndrome, type I

disorder

SNOMED 54036001CUI C0265251

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Cleft of palate

Very frequent (80-99%)HP:0000175

Deafness

Very frequent (80-99%)HP:0000365

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Hyperplasia of supraorbital margins

Very frequent (80-99%)HP:0000336

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Missing all teeth

Very frequent (80-99%)HP:0000674

Partial anodontia

Very frequent (80-99%)HP:0000677

Space between great toe and second toe

Very frequent (80-99%)HP:0001852

Abnormal metacarpal morphology

Frequent (30-79%)HP:0005916

Attachment of thumb close to wrist

Frequent (30-79%)HP:0009623

Bowed femura

Frequent (30-79%)HP:0002980

Bowed long bones

Frequent (30-79%)HP:0006487

Decreased pneumatization of frontal sinus

Frequent (30-79%)HP:0002738

Hypoplastic hands

Frequent (30-79%)HP:0004279

Increased bone mineral density

Frequent (30-79%)HP:0011001

Radiohumeral dislocation

Frequent (30-79%)HP:0003042

Thickened calvaria

Frequent (30-79%)HP:0002684

Thumb hypoplasia

Frequent (30-79%)HP:0009778

Abnormal tarsals

Occasional (5-29%)HP:0001850

Abnormal vertebral segmentation and fusion

Occasional (5-29%)HP:0005640

Decreased body height

Occasional (5-29%)HP:0004322

Fusion of wrist bones

Occasional (5-29%)HP:0005048

Abnormality of the fifth metatarsal bone

HP:0008089

Accessory carpal bones

HP:0004232

Agenesis of a tooth

HP:0001592

Related Conditions

Congenital anomaly of limb(parent)

Otopalatodigital syndrome spectrum disorder(parent)

Congenital anomaly of face(parent)

Conductive hearing loss(parent)

Congenital hearing disorder(parent)

Cleft palate(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 54036001
UMLS CUI: C0265251
Fully Specified Name: Oto-palato-digital syndrome, type I (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.