Brittle cornea syndrome

disorder

SNOMED 719096006CUI C0268344

Overview

Brittle cornea 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.

Corneal dystrophy

Very frequent (80-99%)HP:0001131

Severe myopia

Very frequent (80-99%)HP:0011003

Skin hyperelasticity

Very frequent (80-99%)HP:0000974

Soft skin

Very frequent (80-99%)HP:0000977

Thin cornea

Very frequent (80-99%)HP:0100689

Abnormality of hair color

Frequent (30-79%)HP:0009887

Bruising susceptibility

Frequent (30-79%)HP:0000978

Corneal scarring

Frequent (30-79%)HP:0000559

Gait disturbance

Frequent (30-79%)HP:0001288

Hearing loss, conductive

Frequent (30-79%)HP:0000405

Joint instability

Frequent (30-79%)HP:0001382

Muscle pain

Frequent (30-79%)HP:0003326

Osteoporosis

Frequent (30-79%)HP:0000939

Sensorineural deafness

Frequent (30-79%)HP:0000407

Visual loss

Frequent (30-79%)HP:0000572

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Anomaly of the epiphyses

Occasional (5-29%)HP:0005930

Arachnodactyly

Occasional (5-29%)HP:0001166

Camptodactyly

Occasional (5-29%)HP:0012385

Cleft of palate

Occasional (5-29%)HP:0000175

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Congenital hypotonia

Occasional (5-29%)HP:0001319

Corneal erosion

Occasional (5-29%)HP:0200020

Dental anomalies

Occasional (5-29%)HP:0000164

Fallen arches

Occasional (5-29%)HP:0001763

Glaucoma

Occasional (5-29%)HP:0000501

Hernia

Occasional (5-29%)HP:0100790

Increased susceptibility to fractures

Occasional (5-29%)HP:0002659

Lateral deviation of halluces

Occasional (5-29%)HP:0001822

Mitral valve prolapse

Occasional (5-29%)HP:0001634

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the visual system(parent)

Ehlers-Danlos syndrome(parent)

Congenital anomaly of cornea(parent)

Quick Facts

SNOMED CT: 719096006
UMLS CUI: C0268344
Fully Specified Name: Brittle cornea syndrome (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.