Ectodermal dysplasia with blindness syndrome

disorder

SNOMED 721208007CUI C4302546

Overview

Ectodermal dysplasia with blindness 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.

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Blindness

Very frequent (80-99%)HP:0000618

Corneal dystrophy

Very frequent (80-99%)HP:0001131

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased corneal diameter

Very frequent (80-99%)HP:0000482

Decreased size of eyeball

Very frequent (80-99%)HP:0000568

Dental problems

Very frequent (80-99%)HP:0000164

Dull intelligence

Very frequent (80-99%)HP:0001249

Hardening of skin and connective tissue

Very frequent (80-99%)HP:0000647

Hypotrichosis

Very frequent (80-99%)HP:0008070

Malformation of face

Very frequent (80-99%)HP:0001999

Pinched bridge of nose

Very frequent (80-99%)HP:0000446

Protruding ear

Very frequent (80-99%)HP:0000411

Abnormal skin colour

Occasional (5-29%)HP:0001000

Abnormality of the fingernails

Occasional (5-29%)HP:0001231

Abnormality of vision

Occasional (5-29%)HP:0000504

Cataract

Occasional (5-29%)HP:0000518

Epidermal hyperkeratosis

Occasional (5-29%)HP:0000962

Eye disease

Occasional (5-29%)HP:0000478

Fine hair

Occasional (5-29%)HP:0002213

Hypoacusis

Occasional (5-29%)HP:0000365

Hypohidrosis

Occasional (5-29%)HP:0000966

Keratitis sicca

Occasional (5-29%)HP:0001097

Open skin sore

Occasional (5-29%)HP:0200042

respiratory infections, recurrent

Occasional (5-29%)HP:0002205

Related Conditions

Congenital anomaly of eye(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Ectodermal dysplasia with hair-tooth defects(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of tooth(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 721208007
UMLS CUI: C4302546
Fully Specified Name: Ectodermal dysplasia with blindness syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.