Overview
Sillence 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.
Brachydactyly
Very frequent (80-99%)HP:0001156
Cavus foot
Very frequent (80-99%)HP:0001761
Absent middle bones of hand
Frequent (30-79%)HP:0010239
Acetabular angle flat
Frequent (30-79%)HP:0003180
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Intoe
Frequent (30-79%)HP:0001840
Short middle phalanx of finger
Frequent (30-79%)HP:0005819
Abnormal distal phalanx morphology of finger
Occasional (5-29%)HP:0009832
Abnormality of the proximal phalanges of the hand
Occasional (5-29%)HP:0009834
Abnormality of the proximal phalanx of the hallux
Occasional (5-29%)HP:0010052
Back pain
Occasional (5-29%)HP:0003418
Broad thumbs
Occasional (5-29%)HP:0011304
Bulbous tips of toes
Occasional (5-29%)HP:0001782
Camptodactyly
Occasional (5-29%)HP:0012385
Chess-pawn distal phalanges
Occasional (5-29%)HP:0006170
Degeneration of intervertebral discs
Occasional (5-29%)HP:0008419
Flattened vertebral bodies
Occasional (5-29%)HP:0000926
Large iliac wings
Occasional (5-29%)HP:0008818
Large tarsal bones
Occasional (5-29%)HP:0004679
Nail disease
Occasional (5-29%)HP:0001597
Oval facies
Occasional (5-29%)HP:0000300
Palpebronasal fold
Occasional (5-29%)HP:0000286
Short finger
Occasional (5-29%)HP:0009381
Slender build
Occasional (5-29%)HP:0001533
Vertebral anomalies
Occasional (5-29%)HP:0003468
Wide long bone of foot
Occasional (5-29%)HP:0001783
Related Conditions
Autosomal dominant hereditary disorder(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Congenital anomaly of bone and joint(parent)
Hereditary disorder of musculoskeletal system(parent)
Distal interphalangeal joint symphalangism(parent)
Brachymesophalangia(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 732956000
- UMLS CUI
- C1862092
- Fully Specified Name
- Brachydactyly and distal symphalangism 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.