In-depth insights into various childhood syndromes and disorders.
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Ichthyosis is a rare scaling disorder that may present with symptoms such as psoriasis, contact dermatitis, eczema, and fungal skin infections. Babies born with the syndrome are usually born in what is called a collodion membrane, a translucent covering, earning them the name collodion babies This syndrome is also known as:Collodion Baby, Self-healing, SHCB; Collodion […]
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 […]
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted is a rare genetic syndrome, also known as a neurodevelopmental disorder which affects the intellectual ability as well as the psychomotor development of affected individuals. Symptoms are usually present from birth. Due to its mode of inheritance, it is more common in females. Because Mental retardation is now […]
Intellectual Developmental Disorder, X-Linked, Syndromic 33 is a rare genetic syndrome and neurodevelopmental disorder characterized by intellectual disability and psychomotor delay. The syndrome, due to the way in which it is inherited, is most severe in males. Because Mental Retardation is no longer used, former name Mental Retardation, X-Linked 33 is outdated. Changes to the […]
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type is a rare genetic syndrome, the main symptoms of which include intellectual disability, autism, low muscle tone, and seizures. The syndrome only affects females, due to the way in which it is inherited. This syndrome is also known as:Mental Retardation, X-Linked Syndromic, Bain Type, but the term Mental […]