Childhood Syndromes and Disorders

In-depth insights into various childhood syndromes and disorders.

Understanding Childhood Syndromes and Disorders

Childhood syndromes and disorders encompass a vast array of medical conditions that affect children from birth through adolescence. These conditions can impact various aspects of a child’s health, development, and everyday functioning. Whether genetic, congenital, neurological, or developmental, each syndrome or disorder presents unique challenges and requires specific attention for early identification and accurate diagnosis. Understanding these conditions enables parents to advocate for their children effectively, ensuring they receive the necessary interventions to promote optimal development and quality of life. Awareness and education are vital in navigating the complexities associated with these conditions and in accessing appropriate resources and support. .

Common Characteristics and Challenges

Children with syndromes and disorders often exhibit a range of symptoms that can affect physical health, cognitive abilities, emotional well-being, and social interactions. Common characteristics might include delays in reaching developmental milestones, difficulties with communication and social skills, and specific physical features or medical issues. Managing these conditions can involve a combination of medical treatment, therapeutic interventions, and educational support tailored to the individual needs of the child. The journey can be challenging, but early intervention and a multidisciplinary approach can dramatically improve outcomes and enhance the child’s ability to lead a fulfilling and productive life.

Supporting Your Child’s Journey

Supporting a child with a syndrome or disorder is a multifaceted process that involves collaboration with healthcare professionals, educators, and specialized therapists. As a parent, creating a nurturing and inclusive environment at home and school is crucial for your child’s development and emotional health. Early intervention programs individualized educational plans, and therapies such as speech, occupational, and physical therapy can provide significant benefits. Additionally, connecting with support groups and other families facing similar challenges can offer emotional support and practical advice. Staying informed about the latest research, treatments, and resources allows you to make well-informed decisions and advocate effectively for your child’s needs. With the right support and strategies, children with syndromes and disorders can achieve their full potential and enjoy a high quality of life.

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Articles about Childhood Syndromes and Disorders

  • Syndromes & Disorders
    Andersen Cardiodysrhythmic Periodic Paralysis OMIM #170390

    Andersen Cardiodysrhythmic Periodic Paralysis

    Also known as Andersen-Tawil syndrome this very rare genetic syndrome has been diagnosed in just 200 individuals worldwide, to date. The main symptom of the syndrome is periodic paralysis accompanied by muscle weakness. These symptoms are progressive and may worsen over time. This syndrome is also known as: Andersen Syndrome Andersen-tawil Syndrome; Ats Long Qt Syndrome 7; Lqt7 Periodic paralysis – potassium sensitive Periodic Paralysis, Potassium-sensitive Cardiodysrhythmic Type

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  • Syndromes & Disorders
    Angelman Syndrome AS OMIM #105830

    Angelman syndrome

    Angelman syndrome is a rare genetic condition occurring in 1 in every 15,000 live births, and it affects around 500,000 people worldwide. Developmental delays, usually related to crawling and walking, can be a first symptom of the syndrome. Angelman syndrome is rarely inherited, although a case within the family may lead to a higher risk of future children developing the syndrome. Health conditions associated with Angelman syndrome include seizures, sleep issues, severe speech delay, and intellectual disability. Obesity can be a problem in adolescents with Angelman syndrome due to a large appetite. This syndrome is also known as: Happy Puppet Syndrome, Formerly

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  • Syndromes & Disorders

    Anosmia, Isolated Congenital (ANIC)

    Two unrelated Iranian families, with congenital anosmia, were reported by Ghadami et al., (2004). Two brothers reported by Karstensen et al., (2015) were found to have X-linked CNGA2 mutations. Sailani et al., (2017) described six male patients from a family with isolated congenital anosmia due to hemizygous protein-truncating mutation in the CNAG2 gene. All patients had only congenital anosmia. Syndrome Synonyms Anosmia – Familial Anosmia, Congenital

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  • Syndromes & Disorders

    Aortic Aneurysm, Familial Thoracic syndrome (AAT)

    It is a rare disease affecting the aorta (the large blood vessel responsible for distributing blood from the heart around the body). Also known as TAAD, this genetic syndrome affects the uppermost part of the aorta, known as the thoracic aorta (located near the chest). The syndrome causes a weaker, stretched aorta (aortic dilation). This in turn can lead to an aneurysm, which is a bulge in the wall of the blood vessel. This can be a life threatening condition because it can cause a tearing in the wall of the aorta (aortic dissection), which makes blood flow abnormally between the different layers of the aora. Consequently this disrupts blood flow to other crucial organs and parts of the body, including the brain. It may also cause the aorta to rupture. Generally the syndrome presents in childhood, but may sometimes not be identified until in adulthood.

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  • Syndromes & Disorders
    Apert Syndrome OMIM #101200

    Apert syndrome

    Apert syndrome is a genetic condition which triggers the premature fusing of the skull bones in a child. It occurs in anywhere between 60-80,000 live births. The main symptoms of the syndrome relate to the skull and the premature fusing of the skull bones. However this rare disease triggers a wider variety of symptoms, affecting multiple areas of the body. This syndrome is also known as: Acrocephalosyndactyly – type I Acrocephalosyndactyly, Type I; Acs1 Acs I ACSI

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  • Syndromes & Disorders

    Arboleda-Tham syndrome (ARTHS) (MRD32)

    Also known as Arboleda-Tham syndrome, it is a rare genetic disorder which presents with intellectual disability, speech delay, a small head (microcephaly) and issues with both the heart and the gastrointestinal system. Mental retardation is now referred to as intellectual disability (intellectual developmental disorder).

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  • Syndromes & Disorders
    Arthrogryposis, Distal, Type 2A_ DA2A OMIM #193700

    Arthrogryposis, Distal, Type 2A (DA2A)

    Arthrogryposis, Distal, Type 2A as it is also known, is part of a group of disorders that present with multiple congenital contractures, which make it difficult for individuals to move specific parts of the body. To date there have been just 100 cases diagnosed since it was first identified in 1938. This syndrome is also known as: Cranio-carpo-tarsal dystrophy; Craniocarpotarsal Dysplasia; Craniocarpotarsal Dystrophy DA2A; Freeman-sheldon Syndrome; Fss FSS Whistling face syndrome; Whistling Face-windmill; Vane Hand Syndrome

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  • Syndromes & Disorders
    Arthrogryposis, Distal, Type 8_ DA8 OMIM #178110

    Arthrogryposis, Distal, Type 8 (DA8)

    Also known as Arthrogryposis, Distal, Type 8, this very rare genetic condition has been identified in just 50 people to date. The syndrome is part of a group of disorders that present with multiple congenital contractures, which make it difficult for individuals to move specific parts of their body. This syndrome is also known as: Multiple Pterygium Syndrome; Autosomal Dominant Pterygium Syndrome; Multiple, Autosomal Dominant

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  • Syndromes & Disorders
    Aspartylglucosaminuria_ AGU OMIM #208400

    Aspartylglucosaminuria (AGU)

    Aspartylglucosaminuria is a progressive genetic disorder. Children born with the syndrome are healthy at birth, and symptoms usually develop from the age of 2 years or older. Symptoms tend to worsen with the onset of puberty. This syndrome is also known as: Aga Deficiency AGU Aspartylglucosaminidase Deficiency; Aspartylglycosaminuria Glycoasparaginase; Glycosylasparaginase Deficiency

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Showing 19 to 27 of 310 results