orofaciodigital syndrome X

Orofaciodigital syndrome (OFDS) X, also known as OFD type X, is a rare genetic disorder that affects the development of the face, mouth, and limbs.

Characteristics:

• Facial features:
  • Telecanthus (wide-set eyes)
  • Flat nasal bridge
  • Retrognathia (receding jaw)
• Oral features:
  • Cleft palate
  • Vestibular frenula (a small fold of skin in the mouth)
• Digital deformities:
  • Radial shortening (shortened radius bone in the forearm)
  • Fibular agenesis (absence or underdevelopment of the fibula, a long bone in the lower leg)

Other features:

• Abnormality of head or neck
• Cleft palate
• Depressed nasal bridge

These characteristics are often associated with OFD X syndrome, although the severity and specific features can vary from person to person.

References: [1] (point 5) - Orofaciodigital syndrome x is a rare condition characterized by facial features like telecanthus, flat nasal bridge, and retrognathia, along with oral ... [3] - Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and ... [5] - Orofaciodigital syndrome x is a rare condition characterized by facial features like telecanthus, flat nasal bridge, and retrognathia, along with oral ... [8] - Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and ...

Common Signs and Symptoms

Oral-facial-digital (OFD) syndromes are a group of disorders characterized by facial, oral, and digital abnormalities associated with congenital malformations. The signs and symptoms of OFD syndrome vary widely, but most forms involve problems with development of the face, mouth, and digits.

• Cleft Lip and Palate: A split (cleft) in the lip and a cleft palate are common features of OFD syndrome [1][2].
• Tongue Abnormalities: The tongue may have an unusual lobed shape or be affected by other abnormalities [1].
• Extra, Missing, or Defective Teeth: Affected individuals may also have extra, missing, or defective teeth [2][4].
• Opening in the Roof of the Mouth: An opening in the roof of the mouth (a cleft palate) is another common feature [2][4].
• Hand and Foot Deformities: OFD type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip, and tongue hamartomas [6].

Additional Symptoms

Other reported manifestations include:

• Short femoral neck
• Bilateral cervical ribs
• Abnormal vertebral bodies
• Gracile long bones [8]
• Cleft tongue
• Extra teeth
• Cleft palate
• Fusion of fingers or toes [9]

References:

[1] Common signs and symptoms include a split (cleft) in the lip and a tongue with an unusual lobed shape. There may also be growth of noncancerous ...

[2] Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate).

[3] The signs and symptoms of oral-facial-digital syndrome vary widely.

[4] Affected individuals may also have extra, missing, or defective teeth. Another common feature is an opening in the roof of the mouth (a cleft palate). Some ...

[5] Group of disorders characterized by facial, oral, and digital abnormalities associated with congenital malformations such as cleft palate, malformation of the ...

[6] Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

[7] Distinctive facial features often associated with oral-facial-digital syndrome include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal ...

[8] Oct 14, 2024 — Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. ORPHA ...

[9] 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.

Note: The information provided is based on the search results and may not be an exhaustive list of symptoms.

Diagnostic Testing for Orofaciodigital Syndrome Type X

Diagnosing Orofaciodigital Syndrome (OFDS) type X, also known as Orofaciodigital syndrome with fibular aplasia, requires a comprehensive clinical evaluation combined with genetic testing. The process often involves multiple steps to confirm

Treatment Overview

Orofaciodigital syndrome X (OFD10) is a rare genetic disorder that affects the development of the mouth, face, and digits. While there is no specific treatment for OFD10, various medical interventions can help manage its symptoms.

• Surgical Interventions: Reconstructive surgery may be necessary to correct facial clefts, remove extra teeth, or repair fused fingers or digit anomalies [1].
• Speech Therapy: Speech therapy can be beneficial for individuals with OFD10 who experience speech difficulties due to tongue nodules or other oral-facial abnormalities [5].
• Kidney Problems Management: Treatment for kidney problems associated with OFD10 is directed at the specific issues encountered by each individual, and may involve medication or other interventions [6].

Current Research and Developments

Research in translational medicine has been conducted to better understand the genetic basis of OFD10 and its associated symptoms [7]. However, more studies are needed to confirm and clarify the various types of orofaciodigital syndrome, including OFD10.

Genetic Basis and Inheritance

OFD10 is inherited in an X-linked dominant pattern, meaning that a mutation in one copy of the gene on the X chromosome can cause the disorder [3]. Understanding the genetic basis of OFD10 may lead to more targeted treatment approaches in the future.

Additional Considerations

It's essential for individuals with OFD10 and their families to consult with healthcare professionals for personalized medical advice and treatment. A comprehensive approach, including surgical interventions, speech therapy, and management of kidney problems, can help alleviate symptoms and improve quality of life.

References:

[1] - Context result 1 [3] - Context result 3 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7

The differential diagnosis of Orofaciodigital Syndrome Type X (OFDSX) includes other oral-facial-digital syndromes and disorders, such as OFD2, 3, 4, 5, 6, 8, and 9. Additionally, familial cystic renal disease should also be considered in the differential diagnosis.

• Other oral-facial-digital syndromes: These include OFD1, OFD2, OFD3, OFD4, OFD5, OFD6, OFD8, and OFD9, which are characterized by malformations of the face, mouth, and digits. [1][2]
• Familial cystic renal disease: This is a genetic disorder that affects the development of the kidneys and can be associated with other systemic abnormalities. [3]

It's worth noting that the differential diagnosis of OFDSX can be quite wide and includes various syndromes and disorders, which can hinder accurate diagnosis. [4] Therefore, a comprehensive evaluation by a medical professional is necessary to determine the correct diagnosis.

References: [1] Franco B (2023) - The differential diagnosis of oral-facial-digital syndrome type I (OFD1) [2] Franco B (2016) - Orofaciodigital syndrome 1 (OFD1) [3] Siebert JR (2007) - Beemer–Langer syndrome and other syndromes [4] Ahmed SN (no date available) - Differential diagnosis of OFDS