Spondyloepiphyseal dysplasia tarda

disorder

SNOMED 51952004CUI C3541456

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Growth delay as children

Always present (100%)HP:0008897

Barrel chest

Very frequent (80-99%)HP:0001552

Enlarged metaphyses

Very frequent (80-99%)HP:0003051

Flattened vertebral bodies

Very frequent (80-99%)HP:0000926

Hump-shaped mound of bone in central and posterior portions of vertebral endplate

Very frequent (80-99%)HP:0004594

Increased arm span

Very frequent (80-99%)HP:0012771

Multiple epiphyseal dysplasia

Very frequent (80-99%)HP:0002654

Multiple skeletal anomalies

Very frequent (80-99%)HP:0005775

Poor weight gain

Very frequent (80-99%)HP:0001508

Premature osteoarthritis

Very frequent (80-99%)HP:0003088

Abnormal cartilage morphology

Frequent (30-79%)HP:0002763

Abnormal epiphyseal ossification

Frequent (30-79%)HP:0010656

Abnormal lumbar spine morphology

Frequent (30-79%)HP:0100712

Abnormality of the shoulder

Frequent (30-79%)HP:0003043

Abnormally ossified vertebrae

Frequent (30-79%)HP:0100569

Arthralgias

Frequent (30-79%)HP:0002829

Back pain

Frequent (30-79%)HP:0003418

Hip arthralgia

Frequent (30-79%)HP:0003365

Hip osteoarthritis

Frequent (30-79%)HP:0008843

Increased bone mineral density

Frequent (30-79%)HP:0011001

Joint swelling

Frequent (30-79%)HP:0001386

Knee osteoarthritis

Frequent (30-79%)HP:0005086

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Narrow intervertebral disc spaces

Frequent (30-79%)HP:0002945

Pain under knee cap

Frequent (30-79%)HP:0030839

Short neck

Frequent (30-79%)HP:0000470

Spurred metaphyses of the upper limbs

Frequent (30-79%)HP:0003855

Abnormality of femoral head development

Occasional (5-29%)HP:0010575

Abnormality of the tibial plateaux

Occasional (5-29%)HP:0003832

Biconcave 'codfish' vertebrae

Occasional (5-29%)HP:0004586

Related Conditions

Multiple epiphyseal dysplasia(child)

Spondyloepiphyseal dysplasia tarda Kohn type(child)

Osteochondrodysplasia syndrome(parent)

Spondyloepimetaphyseal disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 51952004
UMLS CUI: C3541456
Fully Specified Name: Spondyloepiphyseal dysplasia tarda (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.