Orofaciodigital syndrome Gabrielli type

Orofaciodigital Syndrome Gabrielli Type

Orofaciodigital syndrome Gabrielli type is a rare genetic disorder that is part of the orofaciodigital syndrome (OFD) spectrum. This condition is characterized by a combination of malformations affecting the face, oral cavity, and digits. It is one of several subtypes of orofaciodigital syndromes, each with distinct genetic and clinical features.

Clinical Features

Individuals with Orofaciodigital syndrome Gabrielli type typically present with a range of symptoms that may include:

• Facial Dysmorphism: Distinctive facial features such as hypertelorism (wide-set eyes), a broad nasal bridge, and a cleft lip or palate.
• Oral Anomalies: These may include tongue abnormalities, dental anomalies, and clefting of the oral cavity.
• Digital Malformations: Polydactyly (extra fingers or toes), syndactyly (webbing of fingers or toes), and brachydactyly (short fingers or toes) are common.
• Other Anomalies: Some individuals may have additional anomalies such as renal cysts, brain malformations, or developmental delays.

Genetics

Orofaciodigital syndrome Gabrielli 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 subtype has not been fully elucidated, but it is distinct from the mutations found in other types of orofaciodigital syndromes.

Diagnosis

Diagnosis of Orofaciodigital syndrome Gabrielli type is based on clinical evaluation and the identification of characteristic features. Genetic testing may be used to confirm the diagnosis and differentiate it from other types of orofaciodigital syndromes.

Management

Management of individuals with Orofaciodigital syndrome Gabrielli type is symptomatic and supportive. This may include surgical correction of cleft lip and palate, dental care, and interventions for digital anomalies. Multidisciplinary care involving specialists such as geneticists, surgeons, and developmental therapists is often required.

Epidemiology

Orofaciodigital syndrome Gabrielli type is extremely rare, with only a few cases reported in the medical literature. Due to its rarity, the exact prevalence is unknown.

History

The syndrome was first described by Gabrielli et al. in the late 20th century, adding to the spectrum of orofaciodigital syndromes known at the time.

Also see

• Orofaciodigital syndrome type I
• Polydactyly
• Cleft lip and palate
• Genetic disorders

NIH genetic and rare disease info

• NIH info on Orofaciodigital syndrome Gabrielli type

Orofaciodigital syndrome Gabrielli type is a rare disease.

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