frontonasal dysplasia 2

Frontonasal dysplasia (FND) is a rare disease that results from abnormal development of the head and face before birth [2]. This condition can manifest in various ways, but it is characterized by abnormalities in the formation of the face, including the eyes, forehead, and nose.

Some common features of frontonasal dysplasia include:

• Abnormalities in the shape or size of the eyes (anophthalmia or microphthalmia)
• Low-set ears
• Clefts in the upper lip or nose
• Hypertelorism (abnormal widening between the eyes)

It's worth noting that frontonasal dysplasia is a complex condition, and its symptoms can vary widely from person to person. In some cases, it may be associated with other genetic disorders or developmental abnormalities.

Sources: [2] - Frontonasal dysplasia is a rare disease that results from abnormal development of the head and face before birth. [1] - Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are ... [4] - Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth.

Frontonasal dysplasia (FND) is a congenital malformation that affects the midface, and its signs and symptoms can vary greatly in severity from person to person.

Common Features:

• Widely spaced eyes (ocular hypertelorism)
• A vertical groove down the middle of the face
• Flat and broad nose
• Encephalocele (an opening of the skull)
• Cleft lip and/or palate
• Abnormally small eyeballs (microphthalmia)

Other Possible Symptoms:

• Low-set, posteriorly rotated ears
• Heart defects, such as tetralogy of Fallot
• Abnormalities of the brain, such as hydrocephalus
• Mild intellectual disability

Types of Frontonasal Dysplasia:

There are three main types of FND, distinguished by their genetic causes and symptoms. These include:

1. Type 1: Characterized by hypertelorism, a wide nasal root, and vertical midline cleft of the nose and/or upper lip.
2. Type 3: Associated with anophthalmia (absence of eyes) or microphthalmia, low-set ears, heart defects, and brain abnormalities.

Inheritance Pattern:

When FND is caused by mutations in the ALX1 or ALX3 gene, it is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations, but the parents typically do not show signs and symptoms of the condition.

References:

• [2] - When frontonasal dysplasia is caused by mutations in the ALX1 or ALX3 gene, it is inherited in an autosomal recessive pattern...
• [4] - Type 3 frontonasal dysplasia. People with type 3 frontonasal dysplasia may be born without eyes (anophthalmia) or have very small eyes (microphthalmia).
• [5] - Frontonasal dysplasia (FND) is a congenital malformation of the midface.
• [9] - Children with FND often have wide-set eyes, a vertical groove down the middle of the face, a flat, broad nose, encephalocele, and/or other characteristics.

Frontonasal dysplasia (FND) 2, also known as frontonasal dysplasia with alopecia and genital anomaly, is a rare genetic disorder that affects the development of the head and face. Diagnostic tests for FND 2 are crucial in confirming the condition and ruling out other possible causes.

Diagnostic Tests:

• Physical Exam: A thorough physical examination by a qualified healthcare professional, including a pediatrician or a geneticist, can help identify characteristic features of FND 2, such as median facial cleft, broad nasal bridge, ocular hypertelorism, widened philtrum, and alopecia (hair loss) [9].
• Imaging Studies: Imaging studies, such as CT scans and/or MRI, may be ordered to examine the bones of the skull and brain. These studies can help identify any abnormalities in the development of the head and face [7].
• Genetic Testing: Genetic testing is recommended for individuals with a personal and/or family history of FND 2. This test analyzes genes associated with facial dysostosis and related disorders, such as ALX4 (11p11.2) [2].

Clinical Genetic Test: A clinical genetic test offered by Intergen can provide a molecular diagnosis of FND 2. This test is recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis and treatment planning [2].

It's essential to note that diagnostic tests for FND 2 should be performed by qualified healthcare professionals in a clinical setting.

References: [1] Context result 3 [2] Context result 2 [7] Context result 7 [9] Context result 9

Treatment Options for Frontonasal Dysplasia

Frontonasal dysplasia, also known as median cleft face syndrome, is a rare congenital disorder that affects the development of the head and face. While there are no specific drug treatments available for this condition, treatment is often focused on addressing the physical abnormalities associated with it.

Surgical Intervention

Treatment for frontonasal dysplasia typically involves surgical intervention to address the nasal and forehead clefts, as well as any other related anomalies (1). The goal of surgery is to move the bony orbits and eyes back together again and reconstruct the affected areas (4).

Multidisciplinary Approach

Given the complexity of frontonasal dysplasia, treatment is often best delivered at a specialist centre where a multidisciplinary team can provide comprehensive care (6). This may involve a team of specialists including surgeons, geneticists, and other healthcare professionals.

No Specific Drug Treatment

It's worth noting that there are no specific drug treatments available for frontonasal dysplasia. Any treatment approach will likely focus on surgical intervention and/or multidisciplinary care (3).

References:

• [1] Patients who present at an early age have two options, including minimally invasive suturectomy surgery between 2-5 months of age.
• [4] Treatment is directed at moving the bony orbits and eyes back together again and reconstructing the nasal and forehead clefts.
• [6] As cranio-fronto-nasal dysplasia in girls can affect various areas of the body, treatment is best delivered at a specialist centre where a multidisciplinary team can provide comprehensive care.

Differential Diagnosis of Frontonasal Dysplasia 2 (FND-2)

Frontonasal dysplasia 2 (FND-2) is a rare disorder characterized by widely spaced eyes, a missing or grooved tip of the nose, and/or malformation of the bone forming the center of the chest. When considering differential diagnosis for FND-2, several conditions should be taken into account.

Conditions to Consider:

• Craniofrontonasal dysplasia: This is a rare disorder that shares some similarities with FND-2, including widely spaced eyes and nasal malformations.
• Frontofacionasal dysplasia (FFND): FFND is another condition that can be considered in the differential diagnosis of FND-2. It is characterized by ocular defects, midface hypoplasia, and midline facial clefting.
• Acro-frontofacionasal dysostosis: This is a rare disorder that involves campto-brachy-polysyndactyly and limb hypoplasia in addition to the midline facial clefts seen in FND-2.

Key Diagnostic Features:

To differentiate between these conditions, it's essential to consider the following key features:

• Ocular hypertelorism: Widely spaced eyes are a hallmark of FND-2 and can also be present in craniofrontonasal dysplasia.
• Nasal malformations: A missing or grooved tip of the nose is characteristic of FND-2, while frontofacionasal dysplasia may involve midline facial clefting.
• Midface hypoplasia: This feature can be present in both FFND and acro-frontofacionasal dysostosis.

Diagnostic Approach:

A comprehensive diagnostic approach should include a thorough physical examination, radiological studies (such as X-rays), and genetic testing to confirm the diagnosis. In some cases, exome and/or genome sequencing may be necessary to identify the underlying genetic cause of FND-2.

By considering these conditions and key diagnostic features, healthcare providers can accurately diagnose frontonasal dysplasia 2 and develop an effective treatment plan for affected individuals.