Overview
Kaler Garrity Stern 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.
Central hypotonia
Always present (100%)HP:0001252
Delayed gross motor development
Frequent (30-79%)HP:0002194
Delayed language development
Frequent (30-79%)HP:0000750
Fine hair
Frequent (30-79%)HP:0002213
Frontal protuberance
Frequent (30-79%)HP:0002007
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Growth delay as children
Frequent (30-79%)HP:0008897
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased fracture rate
Frequent (30-79%)HP:0002757
Joint ligamentous laxity
Frequent (30-79%)HP:0001382
Osteopenia
Frequent (30-79%)HP:0000938
Relatively large head
Frequent (30-79%)HP:0004482
Thinning scalp hair
Frequent (30-79%)HP:0002209
Bulbous nasal tip
Occasional (5-29%)HP:0000414
Epilepsy
Occasional (5-29%)HP:0001250
Flat midface
Occasional (5-29%)HP:0011800
Grey sclerae
Occasional (5-29%)HP:0000592
High-tone sensorineural deafness
Occasional (5-29%)HP:0001757
Increased size of mandible
Occasional (5-29%)HP:0000303
Low-set ears
Occasional (5-29%)HP:0000369
partial or complete syndactyly 2nd-3rd toes
Occasional (5-29%)HP:0004691
Retarded ossification
Occasional (5-29%)HP:0002750
Single flexion crease
Occasional (5-29%)HP:0000954
Abnormality of the face
HP:0000271
Dull intelligence
HP:0001249
Hypotrichosis
HP:0008070
Related Conditions
Congenital anomaly of hair(parent)
Recessive hereditary disorder (autosomal)(parent)
Dysplasia with decreased bone density(parent)
Osteopenia(parent)
Hereditary disorder of the integument(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 732954002
- UMLS CUI
- C1850140
- Fully Specified Name
- Osteopenia, intellectual disability, sparse hair 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.