Overview
BSG 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.
Abnormality of the anus
Always present (100%)HP:0004378
Angle class 3 malocclusion
Always present (100%)HP:0000689
Broad flat nasal bridge
Always present (100%)HP:0000431
Bulbous nose
Always present (100%)HP:0000414
Cryptorchidism, bilateral
Always present (100%)HP:0008689
Decreased volume of upper lip
Always present (100%)HP:0000219
Delayed eruption of teeth
Always present (100%)HP:0000684
Delayed fine motor development
Always present (100%)HP:0010862
High arched palate
Always present (100%)HP:0000218
Hypospadias
Always present (100%)HP:0000047
Impacted teeth
Always present (100%)HP:0001571
Increased nasal width
Always present (100%)HP:0000445
Mental and motor retardation
Always present (100%)HP:0001263
Mental deficiency
Always present (100%)HP:0001249
Mental retardation, mild
Always present (100%)HP:0001256
Missing incisors
Always present (100%)HP:0006485
Nostrils anteverted
Always present (100%)HP:0000463
Premature glabellar skin wrinkling
Always present (100%)HP:6000744
Scrotal cleft
Always present (100%)HP:0000048
Shortening of all finger bones
Always present (100%)HP:0011910
Thick eyebrow
Always present (100%)HP:0000574
Webbed fingers
Always present (100%)HP:0010554
Wide philtrum
Always present (100%)HP:0000289
Wide-spaced nipples
Always present (100%)HP:0006610
Abnormal morphology of the midface
Very frequent (80-99%)HP:0000309
Abnormality of the hypophysial fossa
Very frequent (80-99%)HP:0002679
Abnormality of the vertebral spinous processes
Very frequent (80-99%)HP:0008516
Advanced pneumatization of the mastoid process
Very frequent (80-99%)HP:0010724
Anterior bulging of the globe of eye
Very frequent (80-99%)HP:0000520
Attached earlobe
Very frequent (80-99%)HP:0009907
Related Conditions
Congenital anomaly of neck(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Congenital anomaly of spine(parent)
Disorder of cervical spine(parent)
Genitourinary congenital anomalies(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Disorder of vertebral column(parent)
Musculoskeletal disorder of the neck(parent)
Genetic intellectual disability(parent)
Abnormality of axial skeleton morphology(parent)
Quick Facts
- SNOMED CT
- 719097002
- UMLS CUI
- C0809936
- Fully Specified Name
- Branchioskeletogenital 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.