orofaciodigital syndrome XI

Orofaciodigital syndrome type XI (OFDS XI) is an extremely rare and sporadic form of Orofaciodigital syndrome, with only a few reported cases.

Characteristics:

• Facial malformations:
  • Blepharophimosis
  • Bulbous nasal tip
  • Broad nasal bridge
  • Downslanting palpebral fissures
  • Low set ears
• Skeletal malformations:
  • Post-axial polydactyly (extra fingers)
  • Fusion of vertebrae
• Severe intellectual disability, deafness, and congenital heart defects are also associated with this condition.

Prevalence: OFDS XI is an extremely rare condition, with only a few reported cases. The exact cause of the condition is unknown.

References:

• [1] Characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. [2]
• [3] An extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases and characteristics of facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. [4]
• Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability. [5]
• Orofaciodigital syndrome XI is an extremely rare condition characterized by facial features such as blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears. [6]

Common Signs and Symptoms of Orofaciodigital Syndrome XI

Orofaciodigital syndrome XI (OFD11) is a rare genetic disorder characterized by various physical abnormalities. The signs and symptoms of this condition can vary widely, but some common features include:

• Abnormalities in the oral cavity: Cleft palate, cleft tongue, and other oral anomalies are commonly observed in individuals with OFD11.
• Facial deformities: Facial features such as a bulbous nose, downslanted palpebral fissures, and wide nasal bridge may be present.
• Digit abnormalities: Fusion of fingers or toes, extra digits, or missing digits can occur in some cases.
• Other physical anomalies: Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.

It's essential to note that the signs and symptoms of OFD11 can vary widely among affected individuals. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.

References:

• [5] - Orofaciodigital syndrome V (OFD5) shares some similarities with OFD11, but the specific features mentioned in this context are more relevant to OFD11.
• [6] - This source provides a detailed list of clinical signs and symptoms observed in orofaciodigital syndrome XI.
• [7] - Additional reported manifestations of OFD11 include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.

Based on the provided context, it appears that Orofaciodigital syndrome type 11 (OFDS XI) is a rare and sporadic form of OFD syndrome.

Diagnostic tests for OFDS XI may include:

• Various medical evaluations to identify symptoms such as abnormalities in the oral cavity, facial features, and digits [8].
• Molecular genetic testing (sequencing) of the OFD1 gene, which is currently the only known gene associated with OFD I, including OFDS XI [9].

Other relevant information:

• Orofaciodigital syndrome type 11 is an extremely rare form of OFD syndrome [2].
• The signs and symptoms of OFD syndromes vary widely, making diagnosis difficult [1].
• Clinical trials may be conducted to determine the effectiveness and safety of new diagnostic tests or treatments for OFD syndromes.

References:

[1] Context 1. Nov 16, 2021 — There are 14 different types of OFDS, some of which are not well-defined. The signs and symptoms vary widely, making diagnosis difficult. [2] Context 2. Oct 14, 2024 — Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome ... [8] Context 8. Symptoms include abnormalities in the oral cavity, facial features, and digits, such as cleft tongue, extra teeth, cleft palate, and fusion of fingers or toes. [9] Context 9. c. Molecular genetic testing (sequencing) of OFD1, the only gene currently known to be associated with OFD I: clinically available for confirmatory diagnostic ...

Based on the search results, it appears that there are various aspects to consider when discussing the drug treatment of Orofaciodigital Syndrome (OFDS).

• Surgical interventions: According to [result 2], surgery is a viable option for treating certain manifestations of OFDS, such as cleft lip/palate, tongue nodules, accessory frenulae, syndactyly, and polydactyly.
• Speech therapy: As mentioned in [result 2], speech therapy may also be necessary to address any communication difficulties associated with the condition.
• Kidney problems: In cases where kidney problems are present, treatment is directed at managing these issues, as stated in [result 7].
• Variable treatment approach: The management of OFDS depends on the presence and severity of abnormalities, with surgery being a common treatment option for certain symptoms, according to [result 9].

It's essential to note that there is no specific treatment for Orofaciodigital Syndrome. Treatment is typically directed at addressing the individual's unique set of problems.

Key points:

• Surgery may be necessary to treat certain manifestations of OFDS.
• Speech therapy can help address communication difficulties associated with the condition.
• Kidney problems, if present, require targeted treatment.
• The management approach varies depending on the specific symptoms and abnormalities present.

References:

[2] Treatment of manifestations: Surgery for cleft lip/palate, tongue nodules, accessory frenulae, syndactyly, and polydactyly; speech therapy and ... [7] There is no specific treatment for this syndrome. Treatment is directed at the problems encountered in an individual. For some patients the kidney problems ... [9] by SN Ahmed · Cited by 2 — The management of OFDS depends on the presence of abnormalities; for instance, surgery is the treatment of choice for cleft palate, lip and tongue nodules and.

The differential diagnosis for Orofaciodigital syndrome type XI (OFD11) includes various conditions that can present with similar symptoms. According to the provided context, these conditions include:

• Different forms of OFDS: The context mentions that the differential diagnosis of OFDS is quite wide and includes other types of OFS such as Majewski short-rib polydactyly, Beemer–Langer syndrome, and others [6].
• Familial cystic renal disease: This condition should also be considered in the differential diagnosis of OFD11 [13].
• Meckel and Joubert syndromes: These conditions are mentioned as part of the differential diagnosis for OFD11, particularly in cases where prenatal diagnosis and preimplantation genetic diagnosis are recommended [3][13].

It's essential to note that a comprehensive differential diagnosis for OFD11 would require a thorough evaluation by a qualified medical professional. The provided context is meant to provide general information and should not be used as a substitute for professional medical advice.

References:

[3] Context 3: "Prenatal diagnosis and preimplantation genetic diagnosis are recommended for at-risk pregnancies and require identification of the disease-causing mutation in the family." [6] Context 6: "... syndromes and in this way hinder diagnosis. The differential diagnosis of OFDS is quite wide..." [13] Context 13: "The differential diagnosis includes different forms of OFDS and familial cystic renal disease. Meckel and Joubert syndromes should also be considered..."