Spondylometaphyseal dysplasia - Sutcliffe type

disorder

SNOMED 254078005CUI C0432221

Overview

Spondylometaphyseal dysplasia - Sutcliffe 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.

Coxa vara

Very frequent (80-99%)HP:0002812

Decreased body height

Very frequent (80-99%)HP:0004322

Irregular metaphyses

Very frequent (80-99%)HP:0003025

Metaphyseal corner fracture

Very frequent (80-99%)HP:0003908

Multiple vertebral anomalies

Very frequent (80-99%)HP:0003468

Ovoid vertebral bodies

Very frequent (80-99%)HP:0003300

Abnormal bone ossification

Frequent (30-79%)HP:0011849

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Genu valga

Frequent (30-79%)HP:0002857

Genua vara

Frequent (30-79%)HP:0002970

Hypoplasia involving bones of the upper limbs

Frequent (30-79%)HP:0009824

Limb pain

Frequent (30-79%)HP:0009763

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Pectus carinatum

Frequent (30-79%)HP:0000768

Short lower limbs

Frequent (30-79%)HP:0006385

Short-trunked dwarfism

Frequent (30-79%)HP:0003521

shortened long tubular bones

Frequent (30-79%)HP:0003026

Abnormal antitragus morphology

Occasional (5-29%)HP:0009896

anterior wedging

Occasional (5-29%)HP:0008422

Biconcave 'codfish' vertebrae

Occasional (5-29%)HP:0004586

Biconvex vertebral bodies

Occasional (5-29%)HP:0004625

Congenitally fused vertebrae

Occasional (5-29%)HP:0002948

Flat facial shape

Occasional (5-29%)HP:0012368

Flattened vertebral bodies

Occasional (5-29%)HP:0000926

High arched palate

Occasional (5-29%)HP:0000218

Impaired vision

Occasional (5-29%)HP:0000505

Increased lumbar lordosis

Occasional (5-29%)HP:0002938

Left and right leg differ in length or width

Occasional (5-29%)HP:0100559

Narrow intervertebral disc spaces

Occasional (5-29%)HP:0002945

Near sighted

Occasional (5-29%)HP:0000545

Related Conditions

Spondylometaphyseal dysplasia(parent)

Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT: 254078005
UMLS CUI: C0432221
Fully Specified Name: Spondylometaphyseal dysplasia - Sutcliffe 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.