Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Broad nasal septum
Always present (100%)HP:0009746
Cognitive delay
Always present (100%)HP:0001263
Deafness
Always present (100%)HP:0000365
Hyperextensible fingers
Always present (100%)HP:0001187
Hyperplasia of columella
Always present (100%)HP:0010761
Small nose
Always present (100%)HP:0003196
Thoracic lordosis
Always present (100%)HP:0430043
Abnormal shape of shaft of long bone
Very frequent (80-99%)HP:0000940
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Central hypotonia
Very frequent (80-99%)HP:0001252
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Decreased body height
Very frequent (80-99%)HP:0004322
Disproportionately large hands
Very frequent (80-99%)HP:0001176
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Enlargement of craniofacial bones
Very frequent (80-99%)HP:0004493
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Frontal protuberance
Very frequent (80-99%)HP:0002007
Global developmental delay, severe
Very frequent (80-99%)HP:0011344
Hunched back
Very frequent (80-99%)HP:0002808
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased height of lower lip vermilion
Very frequent (80-99%)HP:0000179
Joint ligamentous laxity
Very frequent (80-99%)HP:0001382
Misshapened teeth
Very frequent (80-99%)HP:0006482
Missing between one and six teeth
Very frequent (80-99%)HP:0000668
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Pectus carinatum
Very frequent (80-99%)HP:0000768
Pectus excavatum
Very frequent (80-99%)HP:0000767
Poor school performance
Very frequent (80-99%)HP:0001249
Protruding lower lip
Very frequent (80-99%)HP:0000232
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Global developmental delay(parent)
Small stature(parent)
Congenital anomaly of musculoskeletal system(parent)
Congenital abnormality of hand and digits(parent)
Genetic intellectual disability(parent)
Abnormality of skeleton morphology(parent)
Quick Facts
- SNOMED CT
- 15182000
- UMLS CUI
- C0265252
- Fully Specified Name
- Coffin-Lowry 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.