Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Camptodactyly
Always present (100%)HP:0012385
Decreased fetal movement
Always present (100%)HP:0001558
Downturned corners of mouth
Always present (100%)HP:0002714
Inability to straighten knee
Always present (100%)HP:0006380
Arachnodactyly
Very frequent (80-99%)HP:0001166
Axillary pterygium
Very frequent (80-99%)HP:0001060
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Multiple pterygia
Very frequent (80-99%)HP:0001040
Partial syndactyly
Very frequent (80-99%)HP:0006101
Pectus deformities
Very frequent (80-99%)HP:0000766
Pectus excavatum
Very frequent (80-99%)HP:0000767
Popliteal pterygium
Very frequent (80-99%)HP:0009756
Pterygium colli
Very frequent (80-99%)HP:0000465
Rocker bottom feet
Very frequent (80-99%)HP:0001838
Scoliosis
Very frequent (80-99%)HP:0002650
Webbed elbow
Very frequent (80-99%)HP:0009760
Abnormal skeletal morphology
Frequent (30-79%)HP:0011842
Abnormal spinal segmentation
Frequent (30-79%)HP:0003422
Abnormality of movement
Frequent (30-79%)HP:0100022
Abnormality of the eyelids
Frequent (30-79%)HP:0000492
Absent/small abdominal wall muscles
Frequent (30-79%)HP:0010318
Acetabular dysplasia
Frequent (30-79%)HP:0008807
Angle class 2 malocclusion
Frequent (30-79%)HP:0000689
Aplasia/Hypoplasia of the skin
Frequent (30-79%)HP:0008065
Arthrogryposis multiplex
Frequent (30-79%)HP:0002804
Atria septal defect
Frequent (30-79%)HP:0001631
Bilateral ptosis
Frequent (30-79%)HP:0001488
Bruising susceptibility
Frequent (30-79%)HP:0000978
Cleft lip, cleft palate
Frequent (30-79%)HP:0000202
Deafness
Frequent (30-79%)HP:0000365
Related Conditions
Quick Facts
- SNOMED CT
- 80773006
- UMLS CUI
- C0265261
- Fully Specified Name
- Escobar 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.