Spondyloepimetaphyseal dysplasia with multiple dislocations

disorder

SNOMED 766820007CUI C1863732

Overview

Spondyloepimetaphyseal dysplasia with multiple dislocations 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.

Abnormal development of end part of bone

Very frequent (80-99%)HP:0002656

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Decreased body height

Very frequent (80-99%)HP:0004322

Hypotrophic midface

Very frequent (80-99%)HP:0011800

Abnormal metatarsal morphology

Frequent (30-79%)HP:0001832

Abnormally shaped wrist bones

Frequent (30-79%)HP:0006014

Absent/small extremities

Frequent (30-79%)HP:0009815

Curved spine

Frequent (30-79%)HP:0010674

Dysmelia

Frequent (30-79%)HP:0040064

Epiphyseal ossification delay

Frequent (30-79%)HP:0002663

Flat facial shape

Frequent (30-79%)HP:0012368

Flattened vertebral bodies

Frequent (30-79%)HP:0000926

Fragmented epiphyses

Frequent (30-79%)HP:0100168

Generalized joint laxity

Frequent (30-79%)HP:0002761

Genu valga

Frequent (30-79%)HP:0002857

Genua vara

Frequent (30-79%)HP:0002970

Laryngeal stenosis

Frequent (30-79%)HP:0001602

Laryngotracheomalacia

Frequent (30-79%)HP:0008755

Low birth weight

Frequent (30-79%)HP:0001518

Metaphyseal striations

Frequent (30-79%)HP:0031367

Multiple joint dislocation

Frequent (30-79%)HP:0012095

Neonatal short-trunk short stature

Frequent (30-79%)HP:0008857

Premature osteoarthritis

Frequent (30-79%)HP:0003088

Slender fingers

Frequent (30-79%)HP:0001238

Slender metacarpals

Frequent (30-79%)HP:0006236

Spondyloepimetaphyseal dysplasia

Frequent (30-79%)HP:0002651

Dislocated femoral heads

Occasional (5-29%)HP:0002827

Fixed flexion at the elbow joint

Occasional (5-29%)HP:0002987

Hunched back

Occasional (5-29%)HP:0002808

Kyphoscoliosis

Occasional (5-29%)HP:0002751

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Multiple dislocations with dysplasia(parent)

Spondyloepimetaphyseal disorder(parent)

Autosomal dominant hereditary disorder(parent)

Developmental hereditary disorder(parent)

BI - Bone injury(parent)

Quick Facts

SNOMED CT: 766820007
UMLS CUI: C1863732
Fully Specified Name: Spondyloepimetaphyseal dysplasia with multiple dislocations (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.