Larsen-like osseous dysplasia, short stature syndrome

disorder

SNOMED 764956007CUI C4707236

Overview

Larsen-like osseous dysplasia, short stature syndrome 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 formation of the hip

Very frequent (80-99%)HP:0001385

Abnormal metacarpal morphology

Very frequent (80-99%)HP:0005916

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Abnormal skeletal development

Very frequent (80-99%)HP:0002652

Abnormal vertebral bodies

Very frequent (80-99%)HP:0003312

Abnormality of pelvic girdle bone morphology

Very frequent (80-99%)HP:0002644

Brachydactyly

Very frequent (80-99%)HP:0001156

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased bone mineral density Z score

Very frequent (80-99%)HP:0004349

Permanent curving of the pinkie finger

Very frequent (80-99%)HP:0004209

Scoliosis

Very frequent (80-99%)HP:0002650

Prominent eyes

Frequent (30-79%)HP:0000520

Small for gestational age infant

Frequent (30-79%)HP:0001511

Corneal opacity

Occasional (5-29%)HP:0007957

Decreased volume of lip vermillion

Occasional (5-29%)HP:0000233

Heart septal defect

Occasional (5-29%)HP:0001671

Narrow mouth

Occasional (5-29%)HP:0000160

Posteriorly angulated ears

Occasional (5-29%)HP:0000358

Psychomotor development deficiency

Occasional (5-29%)HP:0001263

Small nose

Occasional (5-29%)HP:0003196

Squint

Occasional (5-29%)HP:0000486

Related Conditions

Small stature(parent)

Multiple dislocations with dysplasia(parent)

Congenital anomaly of skeletal bone(parent)

BI - Bone injury(parent)

Quick Facts

SNOMED CT: 764956007
UMLS CUI: C4707236
Fully Specified Name: Larsen-like osseous dysplasia, short stature syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.