Orofaciodigital syndrome 1
Orofaciodigital syndrome 1 (pronounced: or-o-fa-cio-digital sin-drome one), also known as OFD1, is a rare genetic disorder that affects the development of the oral cavity, facial features, and digits (fingers and toes).
Etymology
The term "Orofaciodigital" is derived from Latin, where "oro" refers to mouth, "facio" refers to face, and "digital" refers to fingers and toes. Syndrome 1 indicates that it is the first variant of this disorder to be identified.
Symptoms
The symptoms of OFD1 can vary greatly among affected individuals. However, common symptoms include abnormalities in the oral cavity such as cleft palate, lobulated tongue, and missing or extra teeth. Facial features may include a broad nose, wide-set eyes, and low-set ears. Digital anomalies may include polydactyly (extra fingers or toes), syndactyly (fused fingers or toes), and brachydactyly (shortened fingers or toes).
Causes
OFD1 is caused by mutations in the OFD1 gene. This gene provides instructions for making a protein that is involved in the formation and function of cilia, which are small, finger-like projections on the surface of cells. Mutations in the OFD1 gene disrupt the normal development of structures in the oral cavity, face, and digits, leading to the features of OFD1.
Diagnosis
Diagnosis of OFD1 is based on the presence of characteristic signs and symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the OFD1 gene.
Treatment
There is currently no cure for OFD1. Treatment is symptomatic and supportive, and may include surgery to correct oral, facial, or digital abnormalities.
See also
External links
- Medical encyclopedia article on Orofaciodigital syndrome 1
- Wikipedia's article - Orofaciodigital syndrome 1
This WikiMD article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski