First arch syndrome
First Arch Syndrome
First Arch Syndrome (pronunciation: /fɜːrst ɑːrk ˈsɪndroʊm/), also known as First Pharyngeal Arch Syndrome, is a rare congenital disorder that affects the development of the first pharyngeal arch during embryogenesis. The syndrome is characterized by a range of malformations that can affect the ear, jaw, and neck.
Etymology
The term "First Arch Syndrome" is derived from the medical term "pharyngeal arch", which refers to the embryonic structures that give rise to various parts of the head and neck. The "first" refers to the first of these arches, which is affected in this syndrome.
Symptoms
The symptoms of First Arch Syndrome can vary greatly, but often include:
- Microtia - underdevelopment of the external ear
- Micrognathia - underdevelopment of the lower jaw
- Cleft palate - a split in the roof of the mouth
- Conductive hearing loss - due to malformations in the middle ear
Diagnosis
Diagnosis of First Arch Syndrome is typically made based on the presence of characteristic physical features. Genetic testing may also be performed to confirm the diagnosis and identify any underlying genetic mutations.
Treatment
Treatment for First Arch Syndrome is typically focused on managing the individual symptoms and may include surgery to correct physical malformations, hearing aids to manage hearing loss, and speech therapy for those with a cleft palate.
Related Terms
External links
- Medical encyclopedia article on First arch syndrome
- Wikipedia's article - First arch syndrome
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