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Atelosteogenesis type 1

disorder
SNOMED 725141006CUI C0265283

Overview

Source: MedlinePlus.gov, National Library of Medicine. 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
Concave bridge of nose
Always present (100%)HP:0005280
Dislocations of the knees
Always present (100%)HP:0004976
Long collarbone
Always present (100%)HP:0000890
Radiohumeral dislocation
Always present (100%)HP:0003042
Stubby finger
Always present (100%)HP:0009381
Talipes foot deformities
Always present (100%)HP:0001883
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
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Decreased projection of mandible
Occasional (5-29%)HP:0000347
Flattened vertebral bodies
Occasional (5-29%)HP:0000926
Increased amniotic fluid index
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

Related Conditions

Atelosteogenesis(parent)
Congenital anomaly of skeletal bone(parent)
BI - Bone injury(parent)

Quick Facts

SNOMED CT
725141006
UMLS CUI
C0265283
Fully Specified Name
Atelosteogenesis type 1 (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.