Carpenter syndrome

A rare genetic disorder characterized by craniosynostosis and other anomalies

Carpenter syndrome
Synonyms	Acrocephalopolysyndactyly type II
Pronounce
Field	Medical genetics, Pediatrics
Symptoms	Craniosynostosis, polydactyly, syndactyly, short stature, obesity, intellectual disability
Complications	Increased intracranial pressure, developmental delays, feeding difficulties
Onset	At birth
Duration	Lifelong
Types
Causes	Mutations in the RAB23 or MEGF8 genes
Risks	Autosomal recessive inheritance (both parents must be carriers)
Diagnosis	Clinical examination, genetic testing, radiologic imaging
Differential diagnosis	Other types of acrocephalopolysyndactyly syndromes (e.g., Pfeiffer syndrome, Apert syndrome)
Prevention	Genetic counseling for at-risk families
Treatment	Surgical correction of skull and limb abnormalities, supportive care
Medication	Symptomatic treatment as needed
Prognosis	Variable; some individuals lead productive lives with proper medical care
Frequency	Very rare (fewer than 1 in 1,000,000 live births)
Deaths	Dependent on severity and complications

Carpenter syndrome is a rare genetic disorder that is primarily characterized by craniosynostosis, syndactyly, and other physical anomalies. It is one of the acrocephalopolysyndactyly syndromes, which are a group of disorders that affect the development of the skull, hands, and feet.

Signs and symptoms

Individuals with Carpenter syndrome typically present with a variety of physical features and developmental challenges. The most common features include:

• Craniosynostosis: Premature fusion of the cranial sutures, leading to an abnormal shape of the skull. This can result in increased intracranial pressure and may affect brain development.
• Syndactyly: Fusion of the fingers and/or toes. This can range from partial to complete fusion and often requires surgical intervention.
• Polydactyly: The presence of extra digits on the hands or feet.
• Facial anomalies: These may include a flat nasal bridge, low-set ears, and a small jaw.
• Obesity: Many individuals with Carpenter syndrome are prone to obesity.
• Developmental delay: Some affected individuals may experience delays in reaching developmental milestones.

Genetics

Carpenter syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The condition is associated with mutations in the RAB23 gene, which plays a role in the hedgehog signaling pathway, crucial for embryonic development.

Diagnosis

Diagnosis of Carpenter syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the RAB23 gene. Imaging studies such as X-rays or CT scans may be used to assess craniosynostosis and other skeletal anomalies.

Management

Management of Carpenter syndrome is typically multidisciplinary, involving various specialists to address the diverse symptoms. Treatment may include:

• Surgical intervention: To correct craniosynostosis and syndactyly, and to address any other structural anomalies.
• Developmental support: Early intervention programs and therapies to support developmental progress.
• Monitoring and management of obesity: Nutritional counseling and regular monitoring of weight.

Prognosis

The prognosis for individuals with Carpenter syndrome varies depending on the severity of symptoms and the effectiveness of interventions. With appropriate medical care and support, many individuals can lead fulfilling lives.

Related pages

• Craniosynostosis
• Syndactyly
• Polydactyly
• Genetic disorder
• Autosomal recessive

External links

Classification	ICD-10: Q87.0 OMIM: 201000 DiseasesDB: 29583 SNOMED CT: 205813009
External resources	Orphanet: 65759

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