Overview
RHYNS 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.
Hypoplastic femoral neck
Always present (100%)HP:0100864
Osteoporosis
Always present (100%)HP:0000939
Outward facing eye ball
Always present (100%)HP:0000577
Radial bowing
Always present (100%)HP:0002986
Reduced circulating growth hormone concentration
Always present (100%)HP:0034323
Sensorineural deafness
Always present (100%)HP:0000407
shortened long tubular bones
Always present (100%)HP:0003026
Thickened calvaria
Always present (100%)HP:0002684
Total ophthalmoplegia
Always present (100%)HP:0007824
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Hypopituitarism
Very frequent (80-99%)HP:0040075
Liver disease
Very frequent (80-99%)HP:0001392
Nephronophthisis
Very frequent (80-99%)HP:0000090
Retinitis pigmentosa
Very frequent (80-99%)HP:0000510
Skeletal anomalies
Very frequent (80-99%)HP:0000924
Abducens nerve paralysis
Frequent (30-79%)HP:0006897
Abnormal acetabulum morphology
Frequent (30-79%)HP:0003170
Abnormal shape of long bone
Frequent (30-79%)HP:0011314
Abnormality of body height
Frequent (30-79%)HP:0000002
Cranial nerve paralysis
Frequent (30-79%)HP:0006824
Deafness
Frequent (30-79%)HP:0000365
Enophthalmos
Frequent (30-79%)HP:0000490
Multicystic kidney dysplasia
Frequent (30-79%)HP:0000003
Osteopenia
Frequent (30-79%)HP:0000938
Retarded ossification
Frequent (30-79%)HP:0002750
Skeletal dysplasia
Frequent (30-79%)HP:0002652
Small epiphyses
Frequent (30-79%)HP:0010585
Small wings of the pelvic girdle
Frequent (30-79%)HP:0000946
Anterior hypopituitarism
HP:0000830
Brachydactyly
HP:0001156
Related Conditions
Hypopituitarism(parent)
Multiple system malformation syndrome(parent)
Skeletal dysplasia(parent)
Nephronophthisis - medullary cystic disease(parent)
Hereditary disorder of endocrine system(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of nervous system(parent)
Hereditary nephropathy(parent)
Congenital anomaly of retina(parent)
Congenital anomaly of skeletal bone(parent)
Developmental hereditary disorder(parent)
Autosomal recessive retinitis pigmentosa(parent)
Quick Facts
- SNOMED CT
- 723999009
- UMLS CUI
- C1865794
- Fully Specified Name
- Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia 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.