Cockayne syndrome type 2

disorder

SNOMED 890434000CUI C0751038

Overview

Cockayne syndrome type 2 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.

Decreased size of cranium

Always present (100%)HP:0000252

Deep set eye

Always present (100%)HP:0000490

Inverted triangular face

Always present (100%)HP:0000325

Polyneuropathy

Always present (100%)HP:0001271

Postnatal failure to thrive

Always present (100%)HP:0001508

Prominent nasal root

Always present (100%)HP:0000426

Reduced subcutaneous adipose tissue

Always present (100%)HP:0003758

Sensorineural deafness

Always present (100%)HP:0000407

Short penis

Always present (100%)HP:0000054

Dull intelligence

Very frequent (80-99%)HP:0001249

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Malformation of face

Very frequent (80-99%)HP:0001999

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Patchy demyelination of subcortical white matter

Very frequent (80-99%)HP:0002545

Subcortical white matter calcifications

Very frequent (80-99%)HP:0007346

Abnormal retropulsion test

Frequent (30-79%)HP:0002172

Ataxia

Frequent (30-79%)HP:0001251

Dental cavities

Frequent (30-79%)HP:0000670

Gait disturbance

Frequent (30-79%)HP:0001288

Hypertrophy of mandible

Frequent (30-79%)HP:0000303

Pigmentary retinal deposits

Frequent (30-79%)HP:0000580

Progeroid facial appearance

Frequent (30-79%)HP:0005328

Vertical enlargement of face

Frequent (30-79%)HP:0000276

Absence of eyeballs

Occasional (5-29%)HP:0000528

Appendicular hypertonia

Occasional (5-29%)HP:0002509

Congenital cataracts, bilateral

Occasional (5-29%)HP:0000519

Conjunctivitis

Occasional (5-29%)HP:0000509

Decreased size of milk teeth

Occasional (5-29%)HP:0006334

Delayed primary teeth eruption

Occasional (5-29%)HP:0000680

Dysplasia of tooth enamel

Occasional (5-29%)HP:0006297

Related Conditions

Cockayne syndrome(parent)

Quick Facts

SNOMED CT: 890434000
UMLS CUI: C0751038
Fully Specified Name: Cockayne syndrome type 2 (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.