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:
Oral frenulum abnormalities Bifid uvula Hypertelorism Telecanthus
List of uncommon symptoms:
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.
References