In-depth insights into various childhood syndromes and disorders.
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Congenital Hypothyroidism refers to hypothyroidism that is present at birth. This means that the thyroid gland does not function in part, or at all. The thyroid gland generates the hormones that contain iodine and which help to regulate growth and brain development, as well as the metabolism of the body. Congenital hypothyroidism affects the levels […]
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 is a rare neurodevelopmental disorder that is usually identified at birth or during infancy. The syndrome does not affect the development of the structure of the brain but individuals present with extreme global developmental delay, limited or no speech, and limited or no ability to walk […]
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 is a rare neurodevelopmental delay disorder that presents either at birth or during infancy. The main symptoms of the syndrome include delayed development, limited speech development, and usually an inability to walk unaided. This syndrome is also known as:IHPRF3 Changes in the TBCK gene are responsible […]
Learning that your baby has autosomal recessive congenital ichthyosis (ARCI) can feel overwhelming. Many parents first notice something unusual at birth – a baby’s skin may be covered by a tight, shiny membrane or appear unusually thick and scaly. While these signs can be frightening, they do not tell the whole story. Ichthyosis, congenital, autosomal recessive are a rare group of inherited […]
Intellectual Developmental Disorder with Microcephaly and Pontine and Cerebellar Hypoplasia is a rare genetic condition affecting brain development. Intellectual disability is the main symptom of the syndrome. Males have more severe symptoms, due to the nature of inheritance of the syndrome, but are less likely to survive to birth. This syndrome is also known as:Mental […]
Intellectual Developmental Disorder X-Linked, syndromic 102 is a rare genetic syndrome that affects multiple parts of the body. Intellectual disability is a major feature of the condition. It is also now referred to as intellectual developmental disorder, X-linked syndromic, Snijders Blok Type. The syndrome is caused by changes in the DDX3X gene. The condition is […]
Intellectual Developmental Disorder, Autosomal Dominant 17 is a rare disease which presents with intellectual disability, as well as speech and language issues, as well as characteristic facial features. Symptoms might also include neurological, behavioral, and other medical issues. Less than 30 individuals have been diagnosed with the syndrome globally. This rare disease is also known […]
Intellectual Developmental Disorder, Autosomal Dominant 5 is a rare genetic syndrome characterized by severe intellectual disability. Because Mental retardation is now referred to as intellectual disability (intellectual developmental disorder), former name: Mental Retardation, Autosomal Dominant 5; MRD5 is no longer in use. Changes in the SYNGAP1 are responsible for the syndrome; The syndrome so far […]
Intellectual Developmental Disorder, Autosomal Dominant 6, with or without seizures (MRD6) is a rare neurodevelopmental disorder defined by intellectual disability, low muscle tone, and behavioral issues. It affects mainly the nervous system of the body. Because Mental retardation is now referred to as intellectual disability (intellectual developmental disorder), the formerly name Mental Retardation, Autosomal Dominant […]