Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

disorder

SNOMED 22567005CUI C0410538

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.

Dwarfism, short-limbed

Very frequent (80-99%)HP:0008873

Joint ligamentous laxity

Very frequent (80-99%)HP:0001382

Abnormal vertebral bodies

Frequent (30-79%)HP:0003312

Arthritic pain

Frequent (30-79%)HP:0002829

Brachydactyly

Frequent (30-79%)HP:0001156

Distal joint hypermobility

Frequent (30-79%)HP:0020152

Epiphyseal ossification delay

Frequent (30-79%)HP:0002663

Flattened vertebral bodies

Frequent (30-79%)HP:0000926

Generalized joint laxity

Frequent (30-79%)HP:0002761

Increased laxity of fingers

Frequent (30-79%)HP:0006149

Increased lumbar lordosis

Frequent (30-79%)HP:0002938

Irregular end part of long bone

Frequent (30-79%)HP:0010582

Irregular metaphyses

Frequent (30-79%)HP:0003025

Knee joint hypermobility

Frequent (30-79%)HP:0045086

Limited shoulder movement

Frequent (30-79%)HP:0006467

Osteoarthritis

Frequent (30-79%)HP:0002758

Short limbs

Frequent (30-79%)HP:0009826

Shortening of all metacarpals

Frequent (30-79%)HP:0005720

Waddling gait

Frequent (30-79%)HP:0002515

Widened metaphyses

Frequent (30-79%)HP:0003016

Wind-swept deformity of the knees

Frequent (30-79%)HP:0100531

Abnormal ossification involving the femoral head and neck

Occasional (5-29%)HP:0009107

Abnormality of thighbone end part

Occasional (5-29%)HP:0006499

Acetabular angle flat

Occasional (5-29%)HP:0003180

Acetabular dysplasia

Occasional (5-29%)HP:0008807

Beaking of vertebral bodies

Occasional (5-29%)HP:0004568

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Cone-shaped epiphyses

Occasional (5-29%)HP:0010579

Genua vara

Occasional (5-29%)HP:0002970

Hypoplastic femoral neck

Occasional (5-29%)HP:0100864

Related Conditions

Spondyloepimetaphyseal disorder(parent)

Spondyloepiphyseal dysplasia congenita(parent)

Quick Facts

SNOMED CT: 22567005
UMLS CUI: C0410538
Fully Specified Name: Pseudoachondroplastic spondyloepiphyseal dysplasia 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.