Acromesomelic dysplasia Maroteaux type

disorder

SNOMED 718559000CUI C1864356

Overview

Acromesomelic dysplasia Maroteaux 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.

Dwarfism, short-limbed

Always present (100%)HP:0008873

Phalangeal hypoplasia

Always present (100%)HP:0009803

Short toes

Always present (100%)HP:0001831

Abnormal vertebral bodies

Frequent (30-79%)HP:0003312

Acromesomelia

Frequent (30-79%)HP:0003086

anterior wedging

Frequent (30-79%)HP:0008422

Beaking of vertebral bodies

Frequent (30-79%)HP:0004568

Bowed long bones

Frequent (30-79%)HP:0006487

Brachydactyly

Frequent (30-79%)HP:0001156

Bullet vertebral body

Frequent (30-79%)HP:0003300

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Flat nasal bridge

Frequent (30-79%)HP:0005280

Frontal protuberance

Frequent (30-79%)HP:0002007

Hunched back

Frequent (30-79%)HP:0002808

Ligamentous laxity

Frequent (30-79%)HP:0001382

Prominent swayback

Frequent (30-79%)HP:0003307

Short stature, severe disproportionate

Frequent (30-79%)HP:0003498

Sprengel deformity

Frequent (30-79%)HP:0000912

Stiff joint

Frequent (30-79%)HP:0001387

Turridolichocephaly

Frequent (30-79%)HP:0000268

Cone-shaped epiphyses of the fingers

HP:0010230

Dull intelligence

Excluded (<1%)HP:0001249

Extra skin on fingers

HP:0007516

Increased lumbar lordosis

HP:0002938

Large halluces

HP:0001847

Limited forearm extension

HP:0001377

Narrow thoracolumbar interpediculate distance

HP:0008484

Protruding forehead

HP:0011220

Radial bowing

HP:0002986

Radial ray hypoplasia

HP:0002984

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Acromesomelic dysplasia syndrome(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 718559000
UMLS CUI: C1864356
Fully Specified Name: Acromesomelic dysplasia Maroteaux 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.