Orofaciodigital syndrome 1

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Orofaciodigital syndrome 1
Synonyms	Papillon-Léage-Psaume syndrome
Pronounce
Specialty	Medical genetics
Symptoms	Oral anomalies, facial dysmorphism, digital malformations
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Orofaciodigital syndrome type 2, Ellis-van Creveld syndrome
Prevention	N/A
Treatment	Symptomatic treatment, surgical intervention
Medication
Prognosis	N/A
Frequency	Rare
Deaths

Orofaciodigital syndrome 1 (OFD1) is a rare genetic disorder that primarily affects the development of the oral cavity, facial features, and digits (fingers and toes). It is one of the several types of orofaciodigital syndromes, which are a group of disorders characterized by malformations of the face, oral cavity, and digits.

Signs and Symptoms

Individuals with OFD1 typically present with a range of symptoms, which may include:

• Cleft lip and/or cleft palate
• Abnormalities of the teeth, such as missing teeth (hypodontia) or extra teeth (supernumerary teeth)
• Tongue abnormalities, including lobulated or bifid tongue
• Facial asymmetry
• Broad nasal bridge
• Digital malformations, such as brachydactyly (short fingers), syndactyly (webbed fingers), or polydactyly (extra fingers)
• Intellectual disability in some cases

Genetics

OFD1 is inherited in an X-linked dominant pattern. The condition is caused by mutations in the OFD1 gene, which is located on the X chromosome. This gene is responsible for encoding a protein that is involved in the development of the cilia, which are hair-like structures on the surface of cells that play a crucial role in cell signaling and development.

Diagnosis

Diagnosis of OFD1 is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the OFD1 gene. Prenatal diagnosis may be possible through amniocentesis or chorionic villus sampling if there is a known family history of the disorder.

Management

There is no cure for OFD1, and treatment is primarily supportive and symptomatic. Management may include:

• Surgical correction of cleft lip and/or palate
• Dental care to address abnormalities of the teeth
• Speech therapy for individuals with speech difficulties
• Physical and occupational therapy to improve motor skills and function
• Educational support for individuals with intellectual disabilities

Prognosis

The prognosis for individuals with OFD1 varies depending on the severity of the symptoms. With appropriate medical care and support, many individuals can lead relatively normal lives. However, some may experience significant challenges due to the physical and intellectual disabilities associated with the condition.

See also

• Orofaciodigital syndrome
• Cleft lip and palate
• X-linked dominant inheritance
• Genetic disorders
• Intellectual disability

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