In-depth insights into various childhood syndromes and disorders.
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Simpson-Golabi-Behmel syndrome, Type 1 is a rare genetic syndrome that affects multiple parts of the body. The syndrome occurs mainly in males due to its mode of inheritance. The syndrome is an overgrowth syndrome, meaning it triggers excessive growth both before birth and after. This syndrome is also known as: SGBS; Dysplasia Gigantism Syndrome, X-Linked; […]
It is a rare neurodevelopment syndrome. Intellectual disability and developmental delay are characteristic of the syndrome. Seizures and distinct facial features are also associated with the syndrome. It is also referred to as WDR26-related intellectual disability. This syndrome is also known as:Intellectual Disability with Seizures, Abnormal Gait, and Distinctive Facial Features Mutations in the WDR26 […]
Smith-Lemli-Opitz syndrome is a variable genetic disorder characterized by slow growth both before and after birth. It is thought to occur in anywhere from 1 in 20-60,000 live births. This rare disease is also known as multiple congenital anomaly disorder, presenting with intellectual disability. The syndrome is most common in Caucasians of Central European descent. […]
Smith-Magenis syndrome is a genetic developmental disorder. Individuals usually display affectionate personalities but may also present with behavioral issues and repetitive behaviors. Delayed speech and language development, as well as issues with sleep are characteristic of the syndrome as well. This rare disease affects multiple parts of the body and is characterized by distinct facial […]
Sotos syndrome is a genetic disorder characterized by excessive growth in individuals with the syndrome. This excessive growth usually begins in infancy (but prenatal cases have been documented) and lasts through adolescence. It is often accompanied by advanced bone age. The syndrome occurs in 1 in 14,000 live births and affects males and females similarly. […]
Spondyloepimetaphyseal dysplasia, Genevieve type is a rare syndrome that presents with bone dysplasia and severe developmental delay. This syndrome is also known as:Semd, Genevieve Type SEMDG Mutations in the NANS gene are responsible for the syndrome. The syndrome is inherited in an autosomal recessive pattern. The main symptoms of this rare syndrome include severe developmental […]
Stickler syndrome is a hereditary, progressive group of syndromes. This means symptoms associated with, and triggered by this rare disease worsen over time. Symptoms may vary widely in their type and severity between individuals. However, the most serious features of the syndrome can cause vision and hearing impairment, as well as problems with the joints. […]
Sturge-Weber syndrome (SWS) is a rare congenital neurological condition that affects the skin, brain, and eyes. It is present at birth and is most recognized by a port-wine birthmark on the face. While not every child with a port-wine birthmark has Sturge-Weber syndrome, some children may also develop neurological and eye complications, including seizures, glaucoma, and developmental […]
Tatton-Brown-Rahman syndrome is also known as DNMT3A overgrowth syndrome. It is a recently discovered syndrome that causes overgrowth in affected individuals. There is still much that is not known about this rare condition. Intellectual disability and developmental delay are key symptoms of the syndrome. Changes in the DNMTA3 gene are responsible for causing the syndrome. […]