Orofaciodigital syndrome Thurston type
Orofaciodigital Syndrome, Thurston Type
Orofaciodigital syndrome, Thurston type, is a rare genetic disorder that is part of the orofaciodigital syndrome (OFD) spectrum. This condition is characterized by abnormalities in the development of the face, oral cavity, and digits. It is named after the physician who first described the specific type.
Clinical Features[edit | edit source]
Individuals with Orofaciodigital syndrome, Thurston type, typically present with a combination of features affecting the face, mouth, and digits. Common clinical manifestations include:
- Facial Dysmorphism: Patients may exhibit distinctive facial features such as hypertelorism (wide-set eyes), a broad nasal bridge, and a cleft lip or palate.
- Oral Anomalies: These can include clefting of the tongue, lobulated tongue, and dental anomalies such as missing or extra teeth.
- Digital Anomalies: Syndactyly (fusion of fingers or toes), brachydactyly (short fingers or toes), and polydactyly (extra fingers or toes) are common.
- Other Features: Some individuals may have additional anomalies such as kidney malformations or intellectual disability.
Genetics[edit | edit source]
Orofaciodigital syndrome, Thurston type, is inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent. The specific gene mutation responsible for this type of OFD syndrome has not been fully elucidated, but it is part of a group of disorders that may involve ciliary dysfunction.
Diagnosis[edit | edit source]
Diagnosis of Orofaciodigital syndrome, Thurston type, is primarily clinical, based on the characteristic features. Genetic testing can be used to confirm the diagnosis and to differentiate it from other types of orofaciodigital syndrome.
Management[edit | edit source]
Management of this condition is symptomatic and supportive. It may involve:
- Surgical Interventions: To correct cleft lip/palate and syndactyly.
- Dental Care: Regular dental check-ups and interventions to manage dental anomalies.
- Developmental Support: Early intervention programs and educational support for developmental delays.
Prognosis[edit | edit source]
The prognosis for individuals with Orofaciodigital syndrome, Thurston type, varies depending on the severity of the symptoms and the presence of any associated anomalies. With appropriate management, individuals can lead fulfilling lives.
Also see[edit | edit source]
NIH genetic and rare disease info[edit source]
Orofaciodigital syndrome Thurston type is a rare disease.
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Contributors: Prab R. Tumpati, MD
