Pai syndrome
Therapeutic area
Rheumatology
Rare disease
Yes
- Definition
- Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Pai syndrome
- Therapeutic area
- Rheumatology
- Pai syndrome
- Pai syndrome
- median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome
- median cleft of upper lip with polyps of facial skin and nasal mucosa
- All therapeutic areas
- Rheumatology
- Severity
- Mild
- Developmental
- Genetic
- Hereditary
- MONDO ID
- MONDO:0007956
- Parent condition
- MONDO:0016643
Related records
Broader conditions (14)
- Bone development disease
- Bone disorder
- Disease
- Disease by body system or component
- Disease by developmental or physiological process
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Disorder of development or morphogenesis
- Dysostosis
- Frontonasal dysplasia
- Hereditary disease
- Human disease
- Musculoskeletal system disorder
- Skeletal system disorder