Mesomelic dysplasia Savarirayan type

disorder

SNOMED 715652002CUI C1854470

Overview

Mesomelic dysplasia Savarirayan 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.

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Absent fibulae

Very frequent (80-99%)HP:0002990

Bowed long bones

Very frequent (80-99%)HP:0006487

Broad tibial metaphyses

Very frequent (80-99%)HP:0006413

Decreased body height

Very frequent (80-99%)HP:0004322

Dislocated femoral heads

Very frequent (80-99%)HP:0002827

Flared radial metaphysis

Very frequent (80-99%)HP:0004018

Glenoid hypoplasia

Very frequent (80-99%)HP:0006633

High iliac wing

Very frequent (80-99%)HP:0008808

Hypoplasia of proximal radius

Very frequent (80-99%)HP:0006434

Mesomelia

Very frequent (80-99%)HP:0003027

Metatarsus valgus

Very frequent (80-99%)HP:0010508

Narrow iliac wing

Very frequent (80-99%)HP:0002868

Absent shinbone

Frequent (30-79%)HP:0009556

Accessory nipples

Frequent (30-79%)HP:0002558

Anterior tibial bowing

Frequent (30-79%)HP:0006390

Dull intelligence

Frequent (30-79%)HP:0001249

Elbow dislocation

Frequent (30-79%)HP:0003042

Equinovalgus deformity

Frequent (30-79%)HP:0001772

Hypoplasia of both radius and ulna

Frequent (30-79%)HP:0005773

Hypoplastic pubis

Frequent (30-79%)HP:0003173

Limited elbow extension and supination

Frequent (30-79%)HP:0005852

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mesomelic lower limb shortening

Frequent (30-79%)HP:0004987

Radial head dislocation

Frequent (30-79%)HP:0003083

Short fibula

Frequent (30-79%)HP:0003038

Short skankbone

Frequent (30-79%)HP:0005736

Abnormal hands

Excluded (<1%)HP:0001155

Abnormality of the feet

HP:0001760

Late closure of soft spot on the skull

HP:0001476

Related Conditions

Agenesis of fibula(parent)

Mesomelic dysplasia of upper limb(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Genetic disease(parent)

Congenital hypoplasia of tibia(parent)

Quick Facts

SNOMED CT: 715652002
UMLS CUI: C1854470
Fully Specified Name: Mesomelic dysplasia Savarirayan 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.