Medicine:Pai syndrome
| 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 |
| Deaths | - |
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]
References
- ↑ "Síndrome de Pai" (in es). Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=ES&Expert=1993.
- ↑ "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. 2021-11-19. https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa.
- ↑ "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. doi:10.1136/jmg.34.11.952. PMID 9391896.
- ↑ "Cleft, Median, of Upper Lip With Polyps of Facial Skin and Nasal Mucosa" (in en-us). Online Mendelian Inheritance in Man (OMIM). https://omim.org/entry/155145#4.
- ↑ "Pai syndrome" (in en). Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993.
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