Overview
Chudley Rozdilsky 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.
Abnormal palate morphology
Very frequent (80-99%)HP:0000174
Abnormal skeletal muscle fibre morphology
Very frequent (80-99%)HP:0004303
Curvature of little finger
Very frequent (80-99%)HP:0004209
Decreased body height
Very frequent (80-99%)HP:0004322
Disproportionate tall stature
Very frequent (80-99%)HP:0001519
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Excessive bone growth of the skull and face
Very frequent (80-99%)HP:0004493
Extraocular muscle palsy
Very frequent (80-99%)HP:0000597
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Facial palsy
Very frequent (80-99%)HP:0010628
Hypoplasia of penis
Very frequent (80-99%)HP:0008736
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Low gonadotropins (secondary hypogonadism)
Very frequent (80-99%)HP:0000044
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Muscle atrophy, neurogenic
Very frequent (80-99%)HP:0003202
Near sighted
Very frequent (80-99%)HP:0000545
Prominent swayback
Very frequent (80-99%)HP:0003307
Retarded ossification
Very frequent (80-99%)HP:0002750
Sparse body hair
Very frequent (80-99%)HP:0002231
Abnormality of the hips
Frequent (30-79%)HP:0003272
Convex bridge of nose
Frequent (30-79%)HP:0000426
Decreased size of cranium
Frequent (30-79%)HP:0000252
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Protruding ear
Frequent (30-79%)HP:0000411
Abnormal connection between trachea and esophagus
Occasional (5-29%)HP:0002575
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Dysplastic ears
Occasional (5-29%)HP:0000377
Pectus carinatum
Occasional (5-29%)HP:0000768
Rib anomalies
Occasional (5-29%)HP:0000772
Unbalanced face
Occasional (5-29%)HP:0000324
Related Conditions
Multiple system malformation syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital anomaly of skeletal muscle(parent)
Small stature(parent)
Hereditary disorder of endocrine system(parent)
Hereditary disorder of musculoskeletal system(parent)
Reproductive system hereditary disorder(parent)
Hereditary disorder of nervous system(parent)
Congenital hypogonadotropic hypogonadism(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 764959000
- UMLS CUI
- C1854663
- Fully Specified Name
- Intellectual disability, myopathy, short stature, endocrine defect 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.