Kozlowski spondylometaphyseal dysplasia

disorder

SNOMED 111304003CUI C0265280

Overview

Kozlowski spondylometaphyseal 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.

Delayed ossification of carpal bones

Always present (100%)HP:0001216

Dwarfism, short-limbed

Always present (100%)HP:0008873

Abnormality of the vertebral column

Very frequent (80-99%)HP:0000925

Epiphyseal ossification delay

Very frequent (80-99%)HP:0002663

Flattened vertebral bodies

Very frequent (80-99%)HP:0000926

Irregular capital femoral epiphysis

Very frequent (80-99%)HP:0005041

Retarded growth

Very frequent (80-99%)HP:0001510

Short-trunked dwarfism

Very frequent (80-99%)HP:0003521

Abnormal acetabulum morphology

Frequent (30-79%)HP:0003170

Abnormal enchondral ossification

Frequent (30-79%)HP:0003336

Brachydactyly

Frequent (30-79%)HP:0001156

Concave bridge of nose

Frequent (30-79%)HP:0005280

Coxa vara

Frequent (30-79%)HP:0002812

Curvature of digit

Frequent (30-79%)HP:0030084

Distal phalangeal hypoplasia

Frequent (30-79%)HP:0009882

Flared iliac wings

Frequent (30-79%)HP:0002869

Genua vara

Frequent (30-79%)HP:0002970

Halberd-shaped pelvis bone

Frequent (30-79%)HP:0002826

High forehead

Frequent (30-79%)HP:0000348

Iliac abnormalities

Frequent (30-79%)HP:0002867

Narrow sciatic notches

Frequent (30-79%)HP:0003375

Premature osteoarthritis

Frequent (30-79%)HP:0003088

Scoliosis

Frequent (30-79%)HP:0002650

Short long bone of foot

Frequent (30-79%)HP:0010743

Short middle phalanx of finger

Frequent (30-79%)HP:0005819

Short stature, severe

Frequent (30-79%)HP:0003510

Short toes

Frequent (30-79%)HP:0001831

Shortened long tubular bones of the hand

Frequent (30-79%)HP:0001248

Small wrist bones

Frequent (30-79%)HP:0001498

Square iliac bones

Frequent (30-79%)HP:0003177

Related Conditions

Autosomal dominant hereditary disorder(parent)

Spondylometaphyseal dysplasia(parent)

Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT: 111304003
UMLS CUI: C0265280
Fully Specified Name: Kozlowski spondylometaphyseal 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.