Pai syndrome

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]

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

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]