Pai syndrome explained

Pai syndrome
Synonyms:	Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome
Risk:	-->
Prevention:	none
Management:	-->
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]

Notes and References

1. Web site: Orphanet . Síndrome de Pai . 2022-06-13 . es.
2. Web site: 2021-11-19 . 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 . 2022-06-13 . https://web.archive.org/web/20211119014927/https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa . 19 November 2021 . dead.
3. Masuno M, Imaizumi K, Fukushima Y, Tanaka Y, Ishii T, Nakamura M, Kuroki Y . 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 . November 1997 . 9391896 . 1051130 . 10.1136/jmg.34.11.952 .
4. Web site: Online Mendelian Inheritance in Man (OMIM) . 155145 . Cleft, Median, of Upper Lip With Polyps of Facial Skin and Nasal Mucosa . 2022-06-13 . en-us.
5. Web site: Orphanet . Pai syndrome . 2022-06-13 . en.