Overview
Seckel 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.
Cachexia
Very frequent (80-99%)HP:0004326
Cognitive deficits
Very frequent (80-99%)HP:0100543
Craniosyostosis
Very frequent (80-99%)HP:0001363
Curvature of little finger
Very frequent (80-99%)HP:0004209
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Decreased transverse dimension of face
Very frequent (80-99%)HP:0000275
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Global developmental delay, mild
Very frequent (80-99%)HP:0011342
Hooked nose
Very frequent (80-99%)HP:0000444
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Mental deficiency
Very frequent (80-99%)HP:0001249
Prematurely aged appearance
Very frequent (80-99%)HP:0007495
Space between great toe and second toe
Very frequent (80-99%)HP:0001852
Abnormal earlobe morphology
Frequent (30-79%)HP:0000363
Absent ear lobes
Frequent (30-79%)HP:0000387
Cone-shaped epiphyses
Frequent (30-79%)HP:0010579
Defective tooth enamel
Frequent (30-79%)HP:0000682
Dental agenesis
Frequent (30-79%)HP:0009804
Developmental dysplasia of the hip
Frequent (30-79%)HP:0001385
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Glaucoma
Frequent (30-79%)HP:0000501
Loose-jointedness
Frequent (30-79%)HP:0001382
Thinning scalp hair
Frequent (30-79%)HP:0002209
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Related Conditions
Primordial dwarfism(parent)
Hereditary disorder of musculoskeletal system(parent)
Recessive hereditary disorder (autosomal)(parent)
Skeletal dysplasia(parent)
Congenital anomaly of skeletal bone(parent)
Developmental hereditary disorder(parent)
Congenital microcephalus(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 57917004
- UMLS CUI
- C0265202
- Fully Specified Name
- Seckel 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.