Blepharophimosis epicanthus inversus ptosis syndrome

disorder

SNOMED 715391004CUI C0220663

Overview

Blepharophimosis epicanthus inversus ptosis 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.

Epicanthus inversus

Always present (100%)HP:0000537

Increased intercanthal distance

Always present (100%)HP:0000506

Narrow palpebral fissure

Always present (100%)HP:0045025

Blepharophimosis

Very frequent (80-99%)HP:0000581

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Abnormal lacrimal duct morphology

Frequent (30-79%)HP:0011481

Amenorrhea

Frequent (30-79%)HP:0000141

Near sighted

Frequent (30-79%)HP:0000545

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Squint

Occasional (5-29%)HP:0000486

Unibrow

Occasional (5-29%)HP:0000664

Abnormality of the breast

Excluded (<1%)HP:0000769

Capuchin ears

HP:0000378

Decreased corneal diameter

HP:0000482

Decreased sexual hair

HP:0002225

Decreased size of cranium

Excluded (<1%)HP:0000252

Female infertility

HP:0008222

Gonadotropin excess

HP:0000837

High arched palate

HP:0000218

Hyperopia

HP:0000540

Increased width of bridge of nose

HP:0000431

Menstrual irregularity

HP:0000858

Nanophthalmos

HP:0000568

Premature menopause

HP:0008209

Thick, flared eyebrows

HP:0002553

Underdeveloped uterus

HP:0000013

Related Conditions

3q23 microdeletion syndrome(child)

Congenital blepharophimosis(parent)

Dermatosis of eyelid(parent)

Congenital anomaly of skin(parent)

Congenital ptosis(parent)

Congenital deformity of face(parent)

Deformity of eyelid(parent)

Congenital deformity of soft tissue(parent)

Quick Facts

SNOMED CT: 715391004
UMLS CUI: C0220663
Fully Specified Name: Blepharophimosis epicanthus inversus ptosis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.