orofaciodigital syndrome I

Oral-Facial-Digital Syndrome Type I (OFD1) Description

Oral-facial-digital syndrome type I, also known as Papillon-Léage and Psaume syndrome, is a rare genetic disorder characterized by malformations of the face, oral cavity, and digits. The condition is inherited in an X-linked dominant pattern, meaning that a single copy of the mutated gene is enough to cause the syndrome.

Distinctive Facial Features

Individuals with OFD1 often have distinctive facial features, including:

• A wide nose with a broad, flat nasal bridge
• Widely spaced eyes (hypertelorism)
• Fusion of certain digits (polydactyly or syndactyly)

Other Clinical Features

In addition to the above-mentioned facial features, individuals with OFD1 may also experience other clinical features, such as:

• Thickened gums
• Lumpy tongue
• Benign overgrowth of tissue in the tongue (lingual hamartomas)
• Split or cleft lip and/or palate
• Abnormalities in the oral cavity, including extra teeth

Genetic Cause

The genetic cause of OFD1 is attributed to mutations in the OFD1 gene. This gene plays a crucial role in the development of various tissues and organs during embryogenesis.

References:

• [1] Clinical Description of Oral-Facial-Digital Syndrome Type I
• [2] Distinct facial features associated with oral-facial-digital syndrome
• [3] Thickened gums, lumpy tongue, and other clinical features of OFD1
• [4] Genetic cause of oral-facial-digital syndrome type I

Common Signs and Symptoms of Orofaciodigital Syndrome Type I (OFD1)

Orofaciodigital syndrome type I (OFD1) is a rare genetic disorder characterized by malformations of the face, oral cavity, and digits. The signs and symptoms of OFD1 can vary in severity from patient to patient, but some common features include:

• **Facial Dysmorphism

Diagnostic Tests for Orofaciodigital Syndrome Type 1 (OFD1)

Orofaciodigital syndrome type 1 (OFD1) is a rare genetic disorder that can be challenging to diagnose. However, several diagnostic tests are available to confirm the presence of this condition.

• Genetic Testing: The primary method for diagnosing OFD1 is through genetic testing, specifically sequence analysis of the OFD1 gene [5]. This test detects small intragenic deletions/insertions and missense, nonsense, and splicing mutations in the OFD1 gene.
• Direct Sequencing: Direct sequencing of the OFD1 gene is performed first to detect genomic rearrangements not identifiable by direct sequencing [2].
• Dosage Analysis: In cases where direct sequencing is negative, dosage analysis may be performed to detect genomic rearrangements [2].

Other Diagnostic Methods

While genetic testing is the primary method for diagnosing OFD1, other diagnostic methods can also be used in conjunction with genetic testing.

• Physical Examination: A detailed physical examination is essential in diagnosing OFD. Clinicians assess characteristic facial, oral, and digital anomalies [10].
• Imaging Studies: Imaging studies such as ultrasound or CT scans may be performed to evaluate the presence of polycystic kidney disease, which can be associated with OFD1 [9].

References

[1] B Franco · 2023 · Cited by 8 — The diagnosis of OFD1 is established in a female proband with suggestive findings and a heterozygous pathogenic (or likely pathogenic) variant ...

[2] Diagnostic methods include direct sequencing of OFD1 and dosage analysis in negative cases to detect genomic rearrangements not identifiable by direct ...

[3] Nov 16, 2021 — The signs and symptoms vary widely, making diagnosis difficult. OFDS type I is the most common, but all the OFDS types are very rare.

[4] Feb 1, 2010 — Genetic Testing Registry: Orofaciodigital syndrome From the National Institutes of Health; Genetic Testing Registry: Orofaciodigital syndrome I ...

[5] May 11, 2023 — Single-gene testing. Sequence analysis of OFD1 is performed first to detect small intragenic deletions/insertions and missense, nonsense, and ...

[6] Homepage > Diagnostic tests. Search for a ... Laboratory officially designated for this diagnostic test = ... Diagnosis of orofaciodigital syndrome type 1 (OFD1) ...

[7] Diagnosis. edit. Orofaciodigital syndrome type 1 is diagnosed through genetic testing. Some symptoms of Orofaciodigital syndrome type 1 are oral features such ...

[8] Oct 14, 2022 — Assays have been validated for various sample types including EDTA-blood, isolated DNA (excluding from formalin fixed paraffin embedded tissue), ...

[9] The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. OFD1 is ...

[10] A detailed physical examination is the first step in diagnosing OFD. Clinicians assess the characteristic facial, oral, and digital anomalies and may look for ...

Treatment Options for Orofaciodigital Syndrome Type I

Orofaciodigital syndrome type I (OFD1) is a rare genetic disorder that affects the development of the oral cavity, facial features, and digits. While there is no specific treatment for OFD1, various management strategies can help alleviate symptoms and improve quality of life.

• Surgical interventions: Cosmetic or reconstructive surgery may be necessary to address cleft lip and/or palate, tongue nodules, and accessory frenulae (small pieces of tissue that connect the tongue or lips to the surrounding skin) [3].
• Speech therapy: Speech therapy can help individuals with OFD1 develop proper speech and communication skills [1].
• Assessment and treatment of otitis media: Aggressive treatment of ear infections is essential to prevent long-term hearing problems [1].
• Removal of facial milia: In some cases, manual extraction and tretinoin treatment may be effective in removing multiple facial milia (small, benign growths) [5][7].

General Management

Treatment for OFD1 is typically directed at addressing the specific symptoms and complications encountered by each individual. For example:

• Kidney problems: There is no specific treatment for kidney-related issues associated with OFD1; management focuses on treating related conditions [4].
• Other health concerns: Regular monitoring and management of other potential health issues, such as dental problems or hearing impairments, are essential to prevent long-term complications.

References

[1] Treatment is the same as that for isolated cleft palate, incl speech therapy & assessment for & aggressive treatment of otitis media. [Context 1] [3] Management and treatment. Treatment involves cosmetic or reconstructive surgery for cleft lip and/or palate, tongue nodules, and accessory frenulae, removal ... [Context 3] [4] There is no specific treatment for this syndrome. Treatment is directed at the problems encountered in an individual. For some patients the kidney problems ... [Context 4] [5] by HB Hinen · 2018 — We report the successful treatment of multiple facial milia with manual extraction and tretinoin in a child with orofaciodigital syndrome type 1. [Context 5] [7] by HB Hinen · 2018 — We report the successful treatment of multiple facial milia with manual extraction and tretinoin in a child with orofaciodigital syndrome ... [Context 7]

Differential Diagnosis of Orofaciodigital Syndrome Type I (OFD1)

Orofaciodigital syndrome type I (OFD1) is a rare genetic disorder characterized by malformations of the face, mouth, and digits. The differential diagnosis of OFD1 includes other oral-facial-digital syndromes, as well as other conditions that present with similar symptoms.

Conditions to Consider:

• Other oral-facial-digital syndromes (OFDS): These include OFD2, OFD3, and OFD4, which are characterized by similar malformations of the face, mouth, and digits.
• Majewski short-rib polydactyly syndrome: This is a rare genetic disorder that presents with short ribs, polydactyly (extra fingers or toes), and other skeletal abnormalities.
• Beemer-Langer syndrome: This is a rare genetic disorder that presents with facial malformations, cleft palate, and other skeletal abnormalities.
• Familial cystic renal disease: This is a rare genetic disorder that presents with cysts on the kidneys and other organs.

Key Features to Consider:

• Malformations of the face, mouth, and digits
• Extra, missing, or differently shaped teeth
• Fusion of certain fingers or toes (syndactyly)
• Digits that are shorter than usual (brachydactyly)

References:

• [1] by B Franco · 2023 · Cited by 8 — Differential Diagnosis. The differential diagnosis of oral-facial-digital syndrome type I (OFD1) includes other oral-facial-digital syndromes ...
• [4] May 11, 2023 — Differential Diagnosis. The differential diagnosis of oral-facial-digital syndrome type I (OFD1) includes other oral-facial-digital syndromes ...
• [5] Feb 1, 2010 — These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly ), or digits that ...

Note: The above information is based on the search results provided and may not be an exhaustive list of conditions to consider in the differential diagnosis of OFD1.