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.

Signs and symptoms
List of common symptoms:


 * 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).

Epidemiology
According to OMIM, 18 cases have been described in medical literature, but according to ORPHAnet, 67 cases have been described.