Overview
Goldberg Shprintzen megacolon 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.
Cognitive delay
Always present (100%)HP:0001263
Aganglionic megacolon
Very frequent (80-99%)HP:0002251
Cleft of palate
Very frequent (80-99%)HP:0000175
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Specific learning disability
Very frequent (80-99%)HP:0001328
Appendicular hypertonia
Frequent (30-79%)HP:0002509
Eye drop
Frequent (30-79%)HP:0000508
Hyperopia
Frequent (30-79%)HP:0000540
Iris coloboma
Frequent (30-79%)HP:0000612
More grooves in brain
Frequent (30-79%)HP:0002126
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Aortic valve regurgitation
Occasional (5-29%)HP:0001659
Dilated cerebral ventricle
Occasional (5-29%)HP:0002119
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Hypospadias
Occasional (5-29%)HP:0000047
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased femoral neck anteversion
Occasional (5-29%)HP:0012427
Increased width of bridge of nose
Occasional (5-29%)HP:0000431
Large ears
Occasional (5-29%)HP:0000400
Megalocornea
Occasional (5-29%)HP:0000485
Partial anodontia
Occasional (5-29%)HP:0000677
Partial syndactyly
Occasional (5-29%)HP:0006101
Scrotal cleft
Occasional (5-29%)HP:0000048
Seizures
Occasional (5-29%)HP:0001250
Sloping forehead
Occasional (5-29%)HP:0000340
Small pointed chin
Occasional (5-29%)HP:0000307
Sparse eyebrow
Occasional (5-29%)HP:0045075
Thinning scalp hair
Occasional (5-29%)HP:0002209
Related Conditions
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Cleft palate(parent)
Aganglionic megacolon(parent)
Digestive system hereditary disorder(parent)
Inherited autonomic nervous system disorder(parent)
Developmental hereditary disorder(parent)
Congenital microcephalus(parent)
Autonomic neuropathy(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 717822006
- UMLS CUI
- C1836123
- Fully Specified Name
- Goldberg Shprintzen megacolon 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.