Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
11 pairs of ribs
Always present (100%)HP:0000878
2-3 finger cutaneous syndactyly
Always present (100%)HP:0001233
Abdominal situs inversus
Always present (100%)HP:0003363
Abnormal coronary artery origin
Always present (100%)HP:0011636
Absent distal phalanx of the 4th toe
Always present (100%)HP:0100379
Absent index finger phalanges
Always present (100%)HP:0009535
Absent middle finger
Always present (100%)HP:0009460
Aplasia of the 1st metacarpal
Always present (100%)HP:0010035
Atrial septal dilatation
Always present (100%)HP:0011995
Atrioventricular dissociation
Always present (100%)HP:0011709
Attachment of thumb close to wrist
Always present (100%)HP:0009623
Cleft soft palate
Always present (100%)HP:0000185
Cor triatriatum sinister
Always present (100%)HP:0031134
Curved thumb deviated towards palm
Always present (100%)HP:0006156
Deltoid muscle hypoplasia
Always present (100%)HP:0030241
Dilated right atrium
Always present (100%)HP:0030718
Distally placed thumb
Always present (100%)HP:0009622
Double-outlet right ventricle
Always present (100%)HP:0001719
Elbow dislocation
Always present (100%)HP:0003042
Hand monodactyly
Always present (100%)HP:0004058
High arched palate
Always present (100%)HP:0000218
Hypoplasia involving bones of the upper limbs
Always present (100%)HP:0009824
Hypoplasia of both radius and ulna
Always present (100%)HP:0005773
Hypoplastic mandible condyle
Always present (100%)HP:0000347
Increased length of philtrum
Always present (100%)HP:0000343
Klippel-Feil syndrome
Always present (100%)HP:0004602
Limited pronation/supination of forearm
Always present (100%)HP:0006394
Low chest circumference
Always present (100%)HP:0000774
Mitral regurgitation
Always present (100%)HP:0001653
Mitral valve prolapse
Always present (100%)HP:0001634
Related Conditions
Multiple malformation syndrome with limb defect as major feature(parent)
Congenital heart disease(parent)
Autosomal dominant hereditary disorder(parent)
Congenital anomaly of upper limb(parent)
Dysostosis(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Arrhythmia(parent)
Developmental hereditary disorder(parent)
Congenital dysplasia of limb(parent)
Abnormal upper limb bone morphology(parent)
Quick Facts
- SNOMED CT
- 19092004
- UMLS CUI
- C0265264
- Fully Specified Name
- Holt-Oram syndrome (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.