Atelosteogenesis

disorder

SNOMED 43814000CUI C5574658

Overview

Atelosteogenesis 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.

Abdominal protuberance

Always present (100%)HP:0001538

Absent fibulae

Always present (100%)HP:0002990

Bell-shaped chest

Always present (100%)HP:0001591

Dislocations of the knees

Always present (100%)HP:0004976

Flat nasal bridge

Always present (100%)HP:0005280

Long collarbone

Always present (100%)HP:0000890

Short finger

Always present (100%)HP:0009381

Talipes foot deformities

Always present (100%)HP:0001883

Ulnohumeral dislocation

Always present (100%)HP:0003042

Vertebral hypoplasia

Always present (100%)HP:0008417

Abnormal fibula morphology

Frequent (30-79%)HP:0002991

Abnormal ossification involving the femoral head and neck

Frequent (30-79%)HP:0009107

Absent or minimally ossified vertebral bodies

Frequent (30-79%)HP:0004599

Brachydactyly

Frequent (30-79%)HP:0001156

coronal cleft of vertebrae

Frequent (30-79%)HP:0003417

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Poorly developed lungs

Frequent (30-79%)HP:0002089

Rhizomelic limb shortening

Frequent (30-79%)HP:0008905

Short limbs

Frequent (30-79%)HP:0009826

Thoracic hypoplasia

Frequent (30-79%)HP:0005257

Abnormal pancreatic duct morphology

Occasional (5-29%)HP:0030992

Cleft of palate

Occasional (5-29%)HP:0000175

Decreased projection of mandible

Occasional (5-29%)HP:0000347

Flattened vertebral bodies

Occasional (5-29%)HP:0000926

Hydramnios

Occasional (5-29%)HP:0001561

Increased distance between eyes

Occasional (5-29%)HP:0000316

Increased intercanthal distance

Occasional (5-29%)HP:0000506

Joint dislocation

Occasional (5-29%)HP:0001373

Laryngeal stenosis

Occasional (5-29%)HP:0001602

Laryngotracheal stenosis

Occasional (5-29%)HP:0004894

Related Conditions

Atelosteogenesis type 2(child)

Atelosteogenesis type 1(child)

Atelosteogenesis type 3(child)

Osteochondrodysplasia syndrome(parent)

Hereditary disorder of musculoskeletal system(parent)

Multiple dislocations with dysplasia(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 43814000
UMLS CUI: C5574658
Fully Specified Name: Atelosteogenesis (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.