Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Global developmental delay, severe
Very frequent (80-99%)HP:0011344
Hyperplasia of nose
Very frequent (80-99%)HP:0000448
Hypoplastic mandible
Very frequent (80-99%)HP:0000347
Marked growth retardation
Very frequent (80-99%)HP:0008850
Sloping forehead
Very frequent (80-99%)HP:0000340
Stiff joint
Very frequent (80-99%)HP:0001387
Bilateral fifth digit clinodactyly
Frequent (30-79%)HP:0004209
Cryptorchidism
Frequent (30-79%)HP:0000028
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Rocker bottom feet
Frequent (30-79%)HP:0001838
Severe intrauterine growth retardation
Frequent (30-79%)HP:0008846
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Lung segmentation defects
Occasional (5-29%)HP:0002101
Oral cleft
Occasional (5-29%)HP:0000202
Seizures
Occasional (5-29%)HP:0001250
Abnormal shape of joints
HP:0001367
Birth weight less than 10th percentile
HP:0001518
Quick Facts
- SNOMED CT
- 711153001
- UMLS CUI
- C1859405
- Fully Specified Name
- Bowen-Conradi syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.