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Autosomal recessive keratitis-ichthyosis-deafness syndrome

disorder
SNOMED 403780007CUI C1275089

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased hair growth
Always present (100%)HP:0008070
Erythroderma
Always present (100%)HP:0001019
Hypoceruloplasminemia
Always present (100%)HP:0010837
Ichthyosiform abnormality of the skin
Always present (100%)HP:0008064
Increased serum bile acid concentration
Always present (100%)HP:0012202
Mental deficiency
Always present (100%)HP:0001249
Psychomotor development deficiency
Always present (100%)HP:0001263
Reduced serum copper
Always present (100%)HP:0011967
Sensorineural deafness
Always present (100%)HP:0000407
Abnormal liver enzymes
Frequent (30-79%)HP:0002910
Degeneration of cerebrum
Frequent (30-79%)HP:0002059
Hypoalbuminaemia
Frequent (30-79%)HP:0003073
Keratoderma
Frequent (30-79%)HP:0000982
Cirrhosis
HP:0001394
Conjunctivitis
HP:0000509
Decreased body height
HP:0004322
Decreased tear secretion
HP:0000633
Elevated gamma-glutamyltransferase level
Excluded (<1%)HP:0030948
Fragile nails
HP:0001808
Hair loss
HP:0001596
Keratoconus
HP:0000563
Near sighted
HP:0000545
Neuropathy
Excluded (<1%)HP:0009830
Photophobia
HP:0000613
Poor weight gain
HP:0001508

Related Conditions

Keratitis ichthyosis and deafness syndrome(parent)
Autosomal recessive ichthyosis(parent)

Quick Facts

SNOMED CT
403780007
UMLS CUI
C1275089
Fully Specified Name
Autosomal recessive keratitis-ichthyosis-deafness 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.