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:

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.

Epidemiology

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