Childhood Syndromes and Disorders

Articles about Childhood Syndromes and Disorders

• Syndromes & Disorders

  

  Ichthyosis, Congenital, Autosomal Recessive

  This rare disease is a form of a scaling disorder which can include psoriasis, contact dermatitis, eczema, and fungal skin infections as symptoms. 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 Fetus Collodion phenotype Desquamation Of Newborn Ichthyosis – congenital Ichthyosis – exfoliative Ichthyosis – lamellar Ichthyosis Congenita Ichthyosis Congenita Ii; Icr2 Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution Ichthyosis, Lamellar, 1, Formerly; Li1, Formerly Lamellar Exfoliation Of Newborn LI1 LI2 Nonbullous congenital ichthyosiform erythroderma

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• Syndromes & Disorders

  

  Intellectual Developmental Disorder with Microcephaly and Pontine and Cerebellar Hypoplasia (MICPCH)

  This rare disease is a 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: CAGH39 CAMGUK Camguk, Drosophila, Homolog Of; Cmg CMG FGS4 LIN2 Mental Retardation, X-linked, Syndromic, Najm Type; Mrxsna MICPCH Micpch Syndrome MRXSNA Najm (2008) – microcephaly, brainstem, cerebellar hypoplasia (CASK) TNRC8 Vertebrate Lin2 Homolog; Lin2

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• Syndromes & Disorders

  

  Intellectual Developmental Disorder X-Linked, syndromic 102 (MRX102)

  This rare disease is a 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.

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• Syndromes & Disorders

  

  Intellectual Developmental Disorder, Autosomal Dominant 17 (MRD17)

  It 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 as Schuurs-Hoeijmakers syndrome.

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• Syndromes & Disorders

  

  Intellectual Developmental Disorder, Autosomal Dominant 5 (MRD5)

  It is a rare genetic syndrome characterized by severe intellectual disability. Mental retardation is now referred to as intellectual disability (intellectual developmental disorder). Changes in the SYNGAP1 are responsible for the syndrome; The syndrome so far has been identified only as a de novo, or new mutation.

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• Syndromes & Disorders

  

  Intellectual Developmental Disorder, Autosomal Dominant 6, with or without seizures (MRD6)

  It is a rare neurodevelopmental disorder defined by intellectual disability, low muscle tone and behavioral issues. It affects mainly the nervous system of the body. Mental retardation is now referred to as intellectual disability (intellectual developmental disorder).

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• Syndromes & Disorders

  

  Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted (MRXS99F)

  It 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. Mental retardation is now referred to as intellectual disability (intellectual developmental disorder).

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• Syndromes & Disorders

  

  Intellectual Developmental Disorder, X-Linked, Syndromic 33 (MRXS33)

  It 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.

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• Syndromes & Disorders

  

  Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type (MRXSB)

  It 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: MRXSB

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