oblique facial clefting 1

Oblique facial clefting-1 (OBLFC1) is a rare form of orofacial clefting, comprising about 0.25% of all facial clefts [2]. It is caused by heterozygous mutation in the SPECC1L gene on chromosome 22q11 [2].

Oblique facial clefts are characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow [3]. This rare condition can be diagnosed before or after birth, and some abnormal facial or cranial features may be visible during prenatal ultrasound [5].

The oblique facial cleft is an extremely rare and disfiguring congenital anomaly of the face. It occurs with an incidence of 1.43 to 4.85 in 100,000 births [6]. Oblique facial clefts are classified as “No. 3, 4, 5 and 6” in Tessier classification, with Tessier No. 3 cleft being a rare deformity also known as naso-orbital cleft [13].

The clinical manifestations of oblique facial clefting-1 include abnormalities of the eyelids and eyebrows, clefting into the orbital floor (base of the eye socket and lower eyelid), and other facial or cranial features may be visible during prenatal ultrasound [5]. The diagnosis of a rare craniofacial cleft can be made before or after birth.

References: [2] Description. Oblique facial clefts are a rare form of orofacial clefting, comprising about 0.25% of all facial clefts. [3] Extending from the upper lip to the eye, ObFCs are usually more severe than cleft lip and palate and represent a major challenge in terms of surgical repair. [5] Among the oblique facial clefts, Tessier number 5 cleft is extremely rare, representing 0.25% of all facial clefts. [6] The oblique facial cleft is an extremely rare and disfiguring congenital anomaly of the face. It occurs with an incidence of 1.43 to 4.85 in 100,000 births. [13] Oblique facial clefts are classified as “No. 3, 4, 5 and 6” in Tessier classification, with Tessier No. 3 cleft being a rare deformity also known as naso-orbital cleft.

Oblique Facial Clefting Signs and Symptoms

Oblique facial clefting (OFC) is a rare congenital anomaly that affects the face and head. The signs and symptoms of OFC can vary depending on the severity and location of the defect.

• Short stature: Children with OFC may experience short stature, which can be a result of underlying genetic or developmental issues [8].
• Sparse eyebrows: Sparse or thin eyebrows are another common sign associated with OFC [8].
• Facial deformity: The most obvious symptom of OFC is the facial deformity itself, which can range from mild to severe and may involve the upper lip, nose, and eye area.
• Congenital unilateral or bilateral oculo-facial defect: OFC often begins at the upper lip lateral to the Cupid's bow and can extend to the eye area [3].
• Severe facial clefts: Oblique facial clefts are extremely rare congenital anomalies occurring in about 1/100 to 12/1,000 of facial clefts [4].

It is essential to note that each individual with OFC may exhibit a unique combination of these signs and symptoms. A thorough medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.

References: [3] - Context result 3 [4] - Context result 4 [8] - Context result 8

Oblique facial clefting, also known as meloschisis, is a rare congenital deformity characterized by a unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow. Diagnostic tests for this condition can be challenging due to its rarity and variability in clinical manifestations.

• Prenatal ultrasound: Higher-resolution and 3D fetal US can diagnose oblique facial clefting during the antenatal period, although identifying a cleft in the secondary palate or anophthalmia may require additional imaging techniques [5][6].
• Computerized axial tomography (CAT): This imaging technique may be helpful in differentiating extreme microphthalmia from true anophthalmia and detecting bony clefts not visible on other scans [2].
• Three-dimensional ultrasound: The reverse face view, flipped face, or oblique face views can aid in the diagnosis of cleft palate and other facial abnormalities associated with oblique facial clefting [8][9].
• Genetic testing: Genetic testing for non-syndromic clefting may be considered when there is a strong family history of isolated clefts, although this is not directly related to diagnosing oblique facial clefting itself.

It's essential to note that the diagnosis of oblique facial clefting can be made before or after birth, and some abnormal facial features may be visible during prenatal ultrasound [1]. However, a definitive diagnosis often requires a combination of clinical evaluation, imaging studies, and genetic testing.

Treatment Options for Oblique Facial Clefting

Oblique facial clefting, a rare congenital anomaly, requires a comprehensive treatment approach to address the complex facial deformity. While there is no specific "drug" treatment for oblique facial clefting, various medical and surgical interventions can help manage the condition.

• Surgical correction: The primary goal of surgery is to restore normal facial anatomy and function. This may involve multiple procedures, including:
  • Soft tissue reconstruction: Repairing or reconstructing damaged soft tissues, such as skin, muscle, and bone.
  • Bone grafting: Transplanting healthy bone from other areas of the body to fill gaps or defects in the facial bones.
  • Orthognathic surgery: Correcting misalignment or deformities of the jawbones.
• Presurgical orthopedics: In some cases, presurgical orthopedic devices may be used to approximate distorted segments and facilitate lip closure. This can help improve outcomes by reducing tissue tension and promoting healing.

Multidisciplinary Approach

Treatment for oblique facial clefting often involves a team of specialists, including:

• Plastic surgeons: Expertise in soft tissue reconstruction, bone grafting, and other surgical procedures.
• Orthodontists: Specialized care for correcting dental and jaw alignment issues.
• Maxillofacial surgeons: Focus on reconstructive surgery for the face and jaws.

Pharmacological Interventions

While there are no specific "drugs" for treating oblique facial clefting, certain medications may be used to manage associated conditions or symptoms:

• Pain management: Analgesics and other pain-relieving medications can help alleviate discomfort during the healing process.
• Infection control: Antibiotics may be prescribed to prevent or treat infections related to surgical procedures.

Early Intervention

Prompt diagnosis and treatment are crucial for optimal outcomes. Early intervention can help minimize long-term complications and improve overall quality of life.

References:

[1] Resnick and Kawamoto reported this disorder as accounting for 0.24% of all facial clefts [2].

Oblique facial clefts are rare congenital deformities that can be associated with various underlying causes. The differential diagnosis for oblique facial clefting involves considering several factors and conditions.

• Associated anomalies: Oblique facial clefts may be associated with other congenital anomalies, such as CNS (central nervous system) abnormalities, anophthalmia (absence of one or both eyes), and findings of amniotic band disruption sequence [13].
• Tessier classification: The Tessier classification is a system used to categorize facial clefts, including oblique facial clefts. This classification includes numbered clefts from 0 (midline cleft of the lip and nose) to 30 (clefting of lower face or a mandibular cleft). Tessier cleft numbers 4, 5, and 6 are specifically associated with oro-ocular clefts [12].
• Prenatal diagnosis: Prenatal diagnosis is possible for oblique facial clefts through ultrasonographic documentation, particularly when associated with other commonly observed anomalies [13].
• Epidemiology: Oblique facial clefts are among the rarest types of craniofacial clefts, and their exact incidence is not well-documented. However, they can be part of a larger spectrum of congenital malformations that affect the face and skull.

In terms of differential diagnosis, it's essential to consider the following:

• Oblique facial cleft syndrome: This condition encompasses a range of symptoms, including oblique facial clefts, and may be associated with other anomalies [14].
• Craniofacial clefts: These are disruptions in the normal developmental program during embryogenesis, affecting the face, skull, or both. Oblique facial clefts are among the rarest types of craniofacial clefts [11].

A thorough examination and careful consideration of these factors can help confirm a diagnosis and guide management for individuals with oblique facial clefting.

References:

[11] Keywords: Oblique Facial Cleft”, “Etiology”, “Oral management”, “Diagnosis”, “Epidemiology” and “Treatment [12] 2. Proven validity in analyzing complex facial deformities. [13] Prenatal diagnosis: possible by ultrasonographic documenting oblique facial cleft associated with other commonly associated anomalies (CNS anomaly, anophthalmia, and findings of amniotic band disruption sequence) [14] Oblique Facial Cleft Syndrome ...