| Orofaciodigital syndrome 1 | |
|---|---|
| Other names | OFDI, OFDSI, Oral-facial-digital syndrome type 1 |
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| This condition is inherited in anX-linked dominant manner. | |
| Specialty | Medical genetics  |
Orofaciodigital syndrome 1 (OFD1), also calledPapillon-Léage and Psaume syndrome,[1] is anX-linkedcongenital disorder characterized by malformations of theface,oral cavity, anddigits withpolycystic kidney disease and variable involvement of thecentral nervous system.[2]
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Orofaciodigital syndrome type 1 is caused by mutations in theOFD1 gene. OFD1 localizes to bothcentrosomes andbasal bodies within thehumangenetic cellular structure. This suggests that this syndrome may fall into a broad category ofciliary diseases. Theciliary organelles are present in many cellular types throughout thehuman body. Cilia defects adversely affect numerous critical developmental signaling pathways essential to cellular development.[2]
Other types include:
Recent findings in genetic research have suggested that a large number ofgenetic disorders, bothgenetic syndromes andgenetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in thegenotypical root cause of these widely varying,phenotypically-observeddisorders. Orofaciodigital syndrome has been found to be aciliopathy. Other known ciliopathies includeprimary ciliary dyskinesia,Bardet–Biedl syndrome,polycystic kidney disease andpolycystic liver disease,nephronophthisis,Alström syndrome,Meckel–Gruber syndrome and some forms ofretinal degeneration.[2]
Orofaciodigital syndrome type 1 is diagnosed throughgenetic testing. Some symptoms of Orofaciodigital syndrome type 1 are oral features such as, split tongue, benign tumors on the tongue,cleft palate,hypodontia and other dental abnormalities. Other symptoms of the face includehypertelorism andmicrognathia. Bodily abnormalities such as webbed, short, joined, or abnormally curved fingers and toes are also symptoms of Orofaciodigital syndrome type 1. The most frequent symptoms are accessory oral frenulum, broadalveolar ridges,frontal bossing, high palate,hypertelorism,lobulated tongue, median cleft lip, and wide nasal bridge. Genetic screening of the OFD1 gene is used to officially diagnose a patient who has the syndrome, this is detected in 85% of individuals who are suspected to have Orofaciodigital syndrome type 1.[3][4]
Orofaciodigital syndrome type 1 can be treated with reconstructive surgery or the affected parts of the body. Surgery of cleft palate, tongue nodules, additional teeth, accessory frenulae, and orthodontia for malocclusion. Routine treatment for patients with renal disease and seizures may also be necessary. Speech therapy and special education in the later development may also be used as management.[5]