Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome

disorder

SNOMED 717914000CUI C4303550

Overview

Blepharophimosis, ptosis, esotropia, syndactyly, short stature 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.

Abnormality of the cranial nerves

Very frequent (80-99%)HP:0001291

Blepharophimosis

Very frequent (80-99%)HP:0000581

Esotropia

Very frequent (80-99%)HP:0000565

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Increased size of mandible

Very frequent (80-99%)HP:0000303

Thick eyebrow

Very frequent (80-99%)HP:0000574

Thick, flared eyebrows

Very frequent (80-99%)HP:0002553

Unibrow

Very frequent (80-99%)HP:0000664

Decreased body height

Frequent (30-79%)HP:0004322

Increased distance between eyes

Occasional (5-29%)HP:0000316

Increased height of lower lip vermilion

Occasional (5-29%)HP:0000179

Lost smell

Occasional (5-29%)HP:0000458

Mental retardation, borderline

Occasional (5-29%)HP:0006889

Related Conditions

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

Syndactyly of toes(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital blepharophimosis(parent)

Congenital strabismus(parent)

Small stature(parent)

Congenital ptosis(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Esotropia(parent)

Quick Facts

SNOMED CT: 717914000
UMLS CUI: C4303550
Fully Specified Name: Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.