Mosaic trisomy 8 syndrome

disorder

SNOMED 717335009CUI C1096527

Overview

Mosaic trisomy 8 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.

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Abnormal antihelix morphology

Frequent (30-79%)HP:0009738

Abnormal spinal segmentation

Frequent (30-79%)HP:0003422

Broad, upturned nose

Frequent (30-79%)HP:0000455

Corneal opacity

Frequent (30-79%)HP:0007957

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Deep palmar creases

Frequent (30-79%)HP:0006191

Deep wrinkles in soles of feet

Frequent (30-79%)HP:0001869

Dysplastic ears

Frequent (30-79%)HP:0000377

Enophthalmos

Frequent (30-79%)HP:0000490

Frontal protuberance

Frequent (30-79%)HP:0002007

Hydronephrosis

Frequent (30-79%)HP:0000126

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased nasal width

Frequent (30-79%)HP:0000445

Large pinnae

Frequent (30-79%)HP:0000400

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Low chest circumference

Frequent (30-79%)HP:0000774

Narrow pelvis bone

Frequent (30-79%)HP:0003275

Nostrils anteverted

Frequent (30-79%)HP:0000463

Patellar aplasia

Frequent (30-79%)HP:0006443

Prominent ear

Frequent (30-79%)HP:0000411

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Rib anomalies

Frequent (30-79%)HP:0000772

Scoliosis

Frequent (30-79%)HP:0002650

Squint

Frequent (30-79%)HP:0000486

Turridolichocephaly

Frequent (30-79%)HP:0000268

Vertical enlargement of face

Frequent (30-79%)HP:0000276

VUR

Frequent (30-79%)HP:0000076

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Related Conditions

Anomaly of chromosome pair 8(parent)

Trisomy and partial trisomy of autosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 717335009
UMLS CUI: C1096527
Fully Specified Name: Mosaic trisomy 8 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.