Childhood Syndromes and Disorders

Articles about Childhood Syndromes and Disorders

• Syndromes & Disorders

  

  SHORT syndrome

  This rare disease is a multi-system genetic condition, meaning it affects multiple systems and organs of the body. There are currently less than 50 cases of this rare disease recorded worldwide, to date. The syndrome is named for its main symptoms: short stature, ocular depression, Rieger anomaly and teething delay. Syndrome Synonyms: Lipodystrophy, Partial, With Rieger Anomaly And Short Stature Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay

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• Syndromes & Disorders

  

  Shprintzen-Goldberg Craniosynostosis syndrome (SGS)

  This rare disease is a very rare genetic condition that affects the connective tissue of the body. The main syndromes concern the skeletal, facial and cardiovascular parts of the body. There are, to date, less than 50 patients worldwide diagnosed with the condition. Syndrome Synonyms: Craniosynostosis With Arachnodactyly And Abdominal Hernias; Marfanoid Craniosynostosis Syndrome; Marfanoid Disorder With Craniosynostosis, Type I

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• Syndromes & Disorders

  

  Sifrim-Hitz-Weiss syndrome (SIHIWES)

  It is a rare congenital genetic syndrome that presents with intellectual disability, developmental delay and unique facial features. This syndrome is also known as: SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME

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• Syndromes & Disorders

  

  Silver-Russell syndrome (SRS)

  Silver-Russell syndrome is a rare genetic disorder characterized by limited growth both before and after birth known as intrauterine growth restriction. Babies born with the condition have a low weight at birth. It is often referred to as a congenital growth disorder. Symptoms vary from mild to severe depending on the genetic mutations involved in each affected individual’s case. Syndrome Synonyms: RSS Russel-Silver Syndrome Russell-silver Syndrome; Rss Silver-russell Dwarfism Silver-Russell syndrome SRS

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• Syndromes & Disorders

  

  Simpson-Golabi-Behmel syndrome, Type 1 (SGBS1)

  It 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:

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• Syndromes & Disorders

  

  Skraban-Deardorff syndrome (SKDEAS)

  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

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• Syndromes & Disorders

  

  Smith-Lemli-Opitz syndrome (SLOS)

  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. But extremely rare amongst African and Asian populations. Syndrome Synonyms: Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Rsh Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Slo Syndrome

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• Syndromes & Disorders

  

  Smith-Magenis syndrome (SMS)

  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 features. These unique facial features may be more subtle in infancy and childhood, but generally become more pronounced with age. Syndrome Synonyms: Chromosome 17p11.2 Deletion Syndrome

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• Syndromes & Disorders

  

  Sotos syndrome

  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. Syndrome Synonyms: Cerebral gigantism

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