Spondyloepimetaphyseal dysplasia Geneviève type

disorder

SNOMED 773303005CUI C1864872

Overview

Spondyloepimetaphyseal dysplasia Geneviève type 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 body height

Always present (100%)HP:0004322

Supratentorial atrophy

Frequent (30-79%)HP:0002059

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Frontoparietal polymicrogyria

Occasional (5-29%)HP:0012650

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Joint instability

Occasional (5-29%)HP:0001382

Seizures

Occasional (5-29%)HP:0001250

Small basal ganglia

Occasional (5-29%)HP:0012697

Squint

Occasional (5-29%)HP:0000486

White matter loss

Occasional (5-29%)HP:0034295

Acetabular angle flat

HP:0003180

Advanced ossification of carpal bones

HP:0004233

Ataxia

HP:0001251

Coarse face

HP:0000280

Concave bridge of nose

HP:0005280

Decreased size of cranium

HP:0000252

Flattened vertebral bodies

HP:0000926

Full lower lip

HP:0000179

Generalised decreased muscle tone

HP:0001290

Hirsutism

HP:0001007

Hypoplastic femoral neck

HP:0100864

Increased nasal width

HP:0000445

Involuntary, rapid, rhythmic eye movements

HP:0000639

Irregular end part of long bone

HP:0010582

Irregular metaphyses

HP:0003025

Long fibula

HP:0003085

Low anterior hairline

HP:0000294

Low posterior hair line

HP:0002162

Mental deficiency

HP:0001249

Mental retardation, severe

HP:0010864

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

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

Spondyloepimetaphyseal disorder(parent)

Developmental delay(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773303005
UMLS CUI: C1864872
Fully Specified Name: Spondyloepimetaphyseal dysplasia Genevieve type (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.