Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome

disorder

SNOMED 722385008CUI C1836033

Overview

Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma 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.

Broad flat nasal bridge

Always present (100%)HP:0000431

Cortical dysplasia

Always present (100%)HP:0002539

Flat nasal bridge

Always present (100%)HP:0005280

Keratoderma

Always present (100%)HP:0000982

Microcephaly, progressive

Always present (100%)HP:0000253

Postnatal failure to thrive

Always present (100%)HP:0001508

Ataxia

Very frequent (80-99%)HP:0001251

Convex bridge of nose

Very frequent (80-99%)HP:0000426

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Delay in head control

Very frequent (80-99%)HP:0002421

Diffuse palmoplantar hyperkeratosis

Very frequent (80-99%)HP:0007447

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Ichthyosiform abnormality of the skin

Very frequent (80-99%)HP:0008064

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Vertical enlargement of face

Very frequent (80-99%)HP:0000276

Abnormal peripheral nerve transmission

Frequent (30-79%)HP:0003134

Absent deep tendon reflexes

Frequent (30-79%)HP:0001284

Aspiration pneumonia

Frequent (30-79%)HP:0011951

Cerebral pachygyria

Frequent (30-79%)HP:0001302

Corpus callosum abnormality

Frequent (30-79%)HP:0001273

Eye movement issue

Frequent (30-79%)HP:0000496

More grooves in brain

Frequent (30-79%)HP:0002126

Optic atrophy

Frequent (30-79%)HP:0000648

Abnormality of vision

Occasional (5-29%)HP:0000504

Cerebral vascular events

Occasional (5-29%)HP:0001297

Decreased activity of gonads

Occasional (5-29%)HP:0000135

Decreased body height

Occasional (5-29%)HP:0004322

Dental anomalies

Occasional (5-29%)HP:0000164

Related Conditions

Neuroectodermal dysplasia(parent)

Hereditary disorder of nervous system(parent)

Hereditary diffuse palmoplantar keratoderma(parent)

Autosomal recessive ichthyosis(parent)

Congenital anomaly of cerebrum(parent)

Quick Facts

SNOMED CT: 722385008
UMLS CUI: C1836033
Fully Specified Name: Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma 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.