X-linked spondyloepimetaphyseal dysplasia

disorder

SNOMED 770603000CUI C1848097

Overview

X-linked spondyloepimetaphyseal dysplasia 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.

Brachydactyly

Always present (100%)HP:0001156

Flattened vertebral bodies

Always present (100%)HP:0000926

Genua vara

Always present (100%)HP:0002970

Waddling gait

Always present (100%)HP:0002515

Increased lumbar lordosis

Very frequent (80-99%)HP:0002938

Joint ligamentous laxity

Frequent (30-79%)HP:0001382

Abnormality of alkaline phosphatase level

Excluded (<1%)HP:0004379

Acetabular angle flat

HP:0003180

Anterior wedging of T11

HP:0004573

Anterior wedging of T12

HP:0011940

Broad shaft of long bone

HP:0006371

Chevron-shaped distal radial epiphysis

HP:0004000

Cone-shaped end part of long bone fused within their wide portion of wide bone

HP:0005066

Cone-shaped epiphyses of the fingers

HP:0010230

Cone-shaped metacarpal epiphyses

HP:0006059

Delayed ossification of carpal bones

HP:0001216

Disproportionately long ulnae

HP:0003988

Distortion of face

Excluded (<1%)HP:0001999

Flared iliac wings

HP:0002869

Hunched back

HP:0002808

Irregular metaphyses

HP:0003025

Limited forearm extension

HP:0001377

Long fibula

HP:0003085

Narrow pelvis bone

HP:0003275

Pectus carinatum

HP:0000768

Phalangeal hypoplasia

HP:0009803

Poor school performance

Excluded (<1%)HP:0001249

Posterior rib cupping

HP:0000922

Prominent styloid process of ulna

HP:0004981

Radial deviation of hands

HP:0009486

Related Conditions

Spondyloepimetaphyseal disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Mesomelic dysplasia(parent)

Quick Facts

SNOMED CT: 770603000
UMLS CUI: C1848097
Fully Specified Name: X-linked spondyloepimetaphyseal dysplasia (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.