In-depth insights into various childhood syndromes and disorders.
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Andersen Cardiodysrhythmic Periodic Paralysis, also known as Andersen-Tawil syndrome is a very rare genetic syndrome that has been diagnosed in around 200 individuals worldwide, up to 2018. 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 […]
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 […]
Patients had reported anosmia, isolated congenital, often associated with other features, but in all cases, these other features were independent traits. Autosomal dominant inheritance is present in most cases, along with male-to-male transmission. All patients had only congenital anosmia. Syndrome Synonyms Anosmia – Familial Anosmia, Congenital Haplotype analysis showed that all affected individuals shared a […]
Aortic Aneurysm, Familial Thoracic syndrome 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 […]
Apert syndrome is a genetic condition that 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 […]
Arboleda-Tham syndrome is a rare genetic disorder that presents with intellectual disability, speech delay, a small head (microcephaly), and issues with both the heart and the gastrointestinal system. Because mental retardation is now referred to as intellectual disability (intellectual developmental disorder), the formerly name: Mental retardation, Autosomal Dominant 32(MRD32) is no longer in use. Mutations […]
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 […]
Arthrogryposis, Distal, Type 8, is a very rare genetic condition that has been identified in just 50 fetuses due that is lethal. The syndrome is part of a group of disorders that present with multiple congenital contractures. This syndrome is also known as:Multiple Pterygium Syndrome, Lethal Type; Autosomal Dominant Pterygium Syndrome; Multiple, Autosomal Dominant Mutations […]
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 This rare disease is the […]