Pai syndrome

Pai syndrome
Other names	Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome
Specialty	Medical genetics
Causes	Genetic mutation
Prevention	none
Prognosis	Good
Frequency	very rare, between 10-80 cases have been described in medical literature

Pai syndrome, also known as Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome, is a very rare genetic disorder which is characterized by nervous system, cutaneous, ocular, nasal and bucal anomalies with facial dysmorphisms.[1]

Signs and symptoms

List of common symptoms:[2]

• Depressed nasal bridge
• Median cleft lip
• Central nervous system lipomas.
• Nasal polyposis
• Presence of skin tags
• Subcutaneous nodule

List of not-so-common symptoms:[2]

• Oral frenulum abnormalities
• Bifid uvula
• Hypertelorism
• Telecanthus

List of uncommon symptoms:[2]

• Missing/underdeveloped corpus callosum
• Down-slanting palpebral fissures
• Encephalocele
• Coloboma
• Nose defects
• Frontal bossing
• High palate

Causes

A specific, shared genetic cause hasn't been found. The closest thing to it was a case reported by Masuno et al. of a Japanese girl with symptoms of the disorder plus short stature and intellectual disabilities with a spontaneous reciprocal translocation. This translocation involved chromosome Xq28 and chromosome 16q11.2 (more specifically, 46,X,t(X;16)(q28;q11.2).[3]

Epidemiology

According to OMIM, 18 cases have been described in medical literature,[4] but according to ORPHAnet, 67 cases have been described.[5]

References

1. "Síndrome de Pai". Orphanet (in Spanish). Retrieved 2022-06-13.
2. "Median cleft of upper lip with polyps of facial skin and nasal mucosa". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. U.S. National Institutes of Health. 2021-11-19. Archived from the original on 19 November 2021. Retrieved 2022-06-13.
3. Masuno M, Imaizumi K, Fukushima Y, Tanaka Y, Ishii T, Nakamura M, Kuroki Y (November 1997). "Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2)". Journal of Medical Genetics. 34 (11): 952–954. doi:10.1136/jmg.34.11.952. PMC 1051130. PMID 9391896.
4. "Cleft, Median, of Upper Lip With Polyps of Facial Skin and Nasal Mucosa". Online Mendelian Inheritance in Man (OMIM). 155145. Retrieved 2022-06-13.
5. "Pai syndrome". Orphanet. Retrieved 2022-06-13.