Kleeblattschaedel

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Kleeblattschaedel
Child with extreme congenital proptosis and microcephalus Wellcome L0062479.jpg
Synonyms Cloverleaf skull
Pronounce N/A
Specialty Neurosurgery, Pediatrics
Symptoms Craniosynostosis, proptosis, hydrocephalus
Complications Developmental delay, neurological impairment
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutations, fibroblast growth factor receptor mutations
Risks Genetic predisposition
Diagnosis Clinical examination, imaging studies
Differential diagnosis Crouzon syndrome, Apert syndrome
Prevention N/A
Treatment Surgical intervention, cranial vault remodeling
Medication N/A
Prognosis Variable, depends on severity and treatment
Frequency Rare
Deaths N/A


Kleeblattschaedel
Kleeblattschaedel
Kleeblattschaedel
Kleeblattschaedel

Kleeblattsch√§del Syndrome (also known as Cloverleaf Skull Syndrome) is a rare congenital disorder characterized by a complex craniosynostosis that results in a cloverleaf-shaped skull. This condition is associated with a fusion of multiple skull bones, which affects the shape of the head and face. Kleeblattsch√§del Syndrome is a part of a group of disorders known as craniosynostosis syndromes, which involve premature fusion of one or more of the cranial sutures.

Etiology[edit | edit source]

The exact cause of Kleeblattsch√§del Syndrome is not fully understood, but it is believed to be related to genetic mutations. It has been associated with mutations in several genes, including the FGFR2 (Fibroblast Growth Factor Receptor 2) and TWIST1 genes. These mutations are thought to affect the development of the skull bones during embryonic development.

Symptoms[edit | edit source]

The most notable symptom of Kleeblattsch√§del Syndrome is the cloverleaf-shaped skull. Other symptoms can include:

Diagnosis[edit | edit source]

Diagnosis of Kleeblattsch√§del Syndrome is primarily based on physical examination and imaging studies, such as X-rays and MRI (Magnetic Resonance Imaging). These imaging techniques can help in assessing the extent of craniosynostosis and other associated abnormalities.

Treatment[edit | edit source]

Treatment of Kleeblattsch√§del Syndrome is complex and often requires a multidisciplinary approach. Surgical intervention is typically necessary to correct the shape of the skull and alleviate increased intracranial pressure. Multiple surgeries may be required as the child grows. Management also includes treatment of associated conditions, such as hydrocephalus, which may require the placement of a ventriculoperitoneal shunt.

Prognosis[edit | edit source]

The prognosis for individuals with Kleeblattsch√§del Syndrome varies depending on the severity of the condition and the presence of associated anomalies. Early and aggressive treatment can improve outcomes, but the condition can be life-threatening, especially in severe cases.

Epidemiology[edit | edit source]

Kleeblattsch√§del Syndrome is extremely rare, with only a small number of cases reported in the medical literature. It affects males and females equally.

NIH genetic and rare disease info[edit source]

Kleeblattschaedel is a rare disease.


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Contributors: Prab R. Tumpati, MD