Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome

disorder

SNOMED 724016008CUI C4510249

Overview

Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome 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.

Absent eyelashes

Very frequent (80-99%)HP:0000561

Absent lacrimal puncta

Very frequent (80-99%)HP:0001092

Curvature of little finger

Very frequent (80-99%)HP:0004209

Decreased width of the skull

Very frequent (80-99%)HP:0004422

Eye movement issue

Very frequent (80-99%)HP:0000496

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Retrognathia of upper jaw

Very frequent (80-99%)HP:0000327

Thick eyebrow

Very frequent (80-99%)HP:0000574

Thick, flared eyebrows

Very frequent (80-99%)HP:0002553

Dysplastic ears

Frequent (30-79%)HP:0000377

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Prominent lips

Frequent (30-79%)HP:0012471

Retromicrognathia

Frequent (30-79%)HP:0000308

Sloping forehead

Frequent (30-79%)HP:0000340

Tricuspid regurgitation

Frequent (30-79%)HP:0005180

Related Conditions

Partial ablepharon(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the visual system(parent)

Congenital absence of lacrimal drainage structure(parent)

Dysgenesis of lacrimal punctum(parent)

Congenital ptosis(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 724016008
UMLS CUI: C4510249
Fully Specified Name: Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.