Overview
Mardini Nyhan 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.
Respiratory function loss
Very frequent (80-99%)HP:0002093
Absent/small lungs
Frequent (30-79%)HP:0006703
Anomalous pulmonary venous return
Frequent (30-79%)HP:0010772
Aortic coarctation
Frequent (30-79%)HP:0001680
Atria septal defect
Frequent (30-79%)HP:0001631
Lung segmentation defects
Frequent (30-79%)HP:0002101
PDA
Frequent (30-79%)HP:0001643
Abnormal aortic valve morphology
Occasional (5-29%)HP:0001646
Abnormal spinal segmentation
Occasional (5-29%)HP:0003422
Abnormality of the thumbs
Occasional (5-29%)HP:0001172
Atrioventricular septal defect
Occasional (5-29%)HP:0006695
Attachment of thumb close to wrist
Occasional (5-29%)HP:0009623
Bicuspid aortic valve
Occasional (5-29%)HP:0001647
Bilateral single transverse palmar creases
Occasional (5-29%)HP:0007598
Diaphragmatic hernia
Occasional (5-29%)HP:0000776
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Distal phalangeal hypoplasia
Occasional (5-29%)HP:0009882
Epilepsy
Occasional (5-29%)HP:0001250
Helix abnormal
Occasional (5-29%)HP:0011039
Preaxial hand polydactyly
Occasional (5-29%)HP:0001177
Rib anomalies
Occasional (5-29%)HP:0000772
Split spine
Occasional (5-29%)HP:0002414
Talipes equinovalgus
Occasional (5-29%)HP:0001772
Thumb hypoplasia
Occasional (5-29%)HP:0009778
Tricuspid regurgitation
Occasional (5-29%)HP:0005180
Triphalangy of thumb
Occasional (5-29%)HP:0001199
Related Conditions
Congenital heart disease(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Cardiovascular system hereditary disorder(parent)
Congenital malformation of thumb(parent)
Aplasia of lung(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 721976003
- UMLS CUI
- C4302918
- Fully Specified Name
- Lung agenesis with heart defect and thumb anomaly syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.