acrocephalosyndactylia

What is Acrocephalosyndactyly?

Acrocephalosyndactyly, also known as Apert syndrome, is a rare genetic disorder characterized by premature closure of the cranial sutures, resulting in malformations of the skull and facial anomalies. This condition affects the development of the bones in the skull, leading to an abnormal shape and size.

Types of Acrocephalosyndactyly

There are several types of acrocephalosyndactyly, including:

• Type 1: Characterized by craniosynostosis (premature closure of the cranial sutures) and mild cutaneous syndactyly (fusion of fingers and toes).
• Type 2: Involves cloverleaf skull, elbow ankylosis or synostosis, and a cluster of unusual anomalies in addition to the Type 1 characteristics.
• Type 3: Features a very short cranial base, severe ocular proptosis (bulging eyes), elbow ankylosis or synostosis, and an assortment of unusual anomalies.

Characteristics

People with acrocephalosyndactyly may exhibit various physical features, including:

• Premature closure of the cranial sutures
• Malformations of the skull, such as a pointed head (acrocephaly)
• Facial anomalies, like widely spaced eyes and a flat face
• Fusion of fingers and toes (cutaneous syndactyly)

Inheritance

Acrocephalosyndactyly is typically inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.

References:

[1] - The condition is characterized by irregular features of the face and skull (craniosynostosis) and hands and feet. [2] - Type 1 is representative of the aforementioned description. [3] - A group of congenital conditions characterized by craniofacial anomalies with dysmorphic facial features mainly resulting from premature craniosynostosis.

[4] - The condition affects the development of the bones in the skull, leading to an abnormal shape and size. [5] - Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull. [6] - A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and...

Craniofacial Abnormalities

Apert syndrome, also known as acrocephalosyndactylia, is characterized by a range of craniofacial abnormalities. These include:

• High, prominent forehead: A distinctive feature of Apert syndrome, the high forehead is often accompanied by a flat back of the head [2].
• Wide-set, bulging eyes: The eyes are typically widely spaced on the face and may show signs of bulging or slanting downward [11].
• Premature closure of sutures between bones of the skull: This can lead to a range of skull deformities, including a short head with a flat forehead [14].

Hand and Foot Abnormalities

Apert syndrome is also characterized by severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet. This can include:

• Fusion of fingers or toes: In some cases, all four limbs may be affected, with multiple digits fused together [7].
• Midline clefting of the hands and feet: A rare but possible feature of Apert syndrome.

Other Symptoms

In addition to craniofacial and hand/foot abnormalities, individuals with Apert syndrome may also experience:

• Developmental delay: Varying degrees of developmental delay are common in children with Apert syndrome [4].
• Mild to moderate intellectual disability: IQ levels can vary depending on individual factors [5].
• Severe acne: Oily skin and severe acne are possible symptoms of Apert syndrome.
• Frequent ear infections: Ear infections are a common complication of Apert syndrome.

References

[1] Named after French physician Eugene Apert, who first described the condition in 1906. [2] A distinctive feature of Apert syndrome, often accompanied by a flat back of the head [2]. [3] Wide-set, bulging eyes are a common symptom of Apert syndrome [11]. [4] Varying degrees of developmental delay are possible in children with Apert syndrome [4]. [5] Mild to moderate intellectual disability is a possible complication of Apert syndrome [5]. [7] Fusion of fingers or toes can occur in individuals with Apert syndrome [7]. [14] Premature closure of sutures between bones of the skull can lead to craniofacial deformities [14].

Diagnostic Tests for Acrocephalosyndactyly

Acrocephalosyndactyly, a group of congenital conditions characterized by irregular features of the face and skull (craniosynostosis) and hands and feet, can be diagnosed through various diagnostic tests. Here are some of the common tests used to diagnose acrocephalosyndactyly:

• X-rays: X-rays of the hand, foot, and skull are commonly done to confirm the diagnosis of acrocephalosyndactyly [1].
• Computed Tomography (CT) scan: A CT scan may be ordered to get a detailed image of the skull and facial bones [2].
• Genetic testing: Genetic testing can confirm the diagnosis of Apert syndrome, a type of acrocephalosyndactyly. This test is highly sensitive (>98%) and specific (>99%) for AS [10].

Additional Tests

Other tests that may be ordered to diagnose acrocephalosyndactyly include:

• Hearing tests: Hearing tests should always be performed as people with Apert syndrome can have hearing problems [6].
• Molecular genetic testing: Molecular genetic testing can confirm the diagnosis of Apert syndrome and identify the underlying genetic mutation [4].

Prenatal Testing

In some cases, acrocephalosyndactyly can be diagnosed prenatally through ultrasound (US) in the late second and third trimesters. Characteristic findings include a cloverleaf anomaly, acrobrachyocephalic skull shape, ventriculomegaly [10].

References

[1] Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull (craniosynostosis) and hands and feet.

[2] Our specialists may order several tests, including: X-rays. Computed tomography (CT) scan.

[4] Diagnosis is based on physical examination together with imaging data.

[6] Hand, foot, and skull x-rays will be done. Hearing tests should always be performed.

[10] Genetic testing can confirm the diagnosis of Apert syndrome.

Treatment Options for Acrocephalosyndactylia

Acrocephalosyndactylia, also known as Apert syndrome, is a rare genetic disorder that affects the development of the skull and limbs. While there are various treatment options available, drug treatment plays a crucial role in managing the condition.

Antibiotic Therapy Children with Apert syndrome are prone to ear and sinus infections caused by bacteria, requiring antibiotic therapy [4]. This is essential to prevent complications and promote overall health.

Isotretinoin for Acne Treatment Acneiform skin lesions are generally resistant to first-line acne agents. However, isotretinoin has been shown to be effective in treating acne in patients with Apert syndrome [5-9]. Different dosage regimens have been used so far, and the treatment is often considered when conventional methods fail.

Other Medications While there are no specific medications that target the underlying cause of acrocephalosyndactylia, various treatments may be prescribed to manage related symptoms. For instance, amphotericin B has been used in cases of corneal ulcers [3].

Important Note It is essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on individual needs and circumstances.

References: [1] Context result 4 [2] Context result 6 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 9

Differential Diagnosis of Acrocephalosyndactylia

Acrocephalosyndactyly, a group of congenital conditions characterized by irregular features of the face and skull (craniosynostosis) and hands and feet, has several differential diagnoses. These include:

• Crouzon syndrome: A genetic disorder that causes fusion of the skull bones, similar to acrocephalosyndactyly.
• Pfeiffer syndrome: A rare genetic disorder characterized by craniosynostosis, facial anomalies, and cutaneous syndactyly of the hands and feet.
• Saethre-Chotzen syndrome: A condition characterized by mild coronal craniosynostosis, facial anomalies, and cutaneous syndactyly of the hands and feet.
• Apert syndrome: A genetic disorder that causes fusion of the skull, hands, and feet bones, similar to acrocephalosyndactyly.
• Carpenter syndrome: A rare genetic disorder characterized by craniosynostosis, facial anomalies, and cutaneous syndactyly of the hands and feet.
• Jackson-Weiss syndrome: A condition characterized by craniosynostosis, facial anomalies, and cutaneous syndactyly of the hands and feet.

These differential diagnoses are made based on a constellation of clinical features, including craniosynostosis, facial anomalies, and cutaneous syndactyly of the hands and feet. The diagnosis is often made through a combination of physical examination, medical history, and genetic testing.

References:

• [1] Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull (craniosynostosis) and hands and feet.
• [3] Pfeiffer syndrome: A rare genetic disorder characterized by craniosynostosis, facial anomalies, and cutaneous syndactyly of the hands and feet.
• [5] Saethre-Chotzen syndrome: A condition characterized by mild coronal craniosynostosis, facial anomalies, and cutaneous syndactyly of the hands and feet.
• [9] Apert syndrome: A genetic disorder that causes fusion of the skull, hands, and feet bones, similar to acrocephalosyndactyly.
• [11] The differential diagnosis in ACS syndromes is generally based on the presence or absence of distinct limb and facial features due to wide phenotypic variations in patients with identical mutations.