Norman–Roberts syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Norman–Roberts syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Norman–Roberts syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = [[Lissencephaly]] type 1, [[Lissencephaly]] with [[cerebellar hypoplasia]] | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Severe intellectual disability]], [[seizures]], [[hypotonia]], [[microcephaly]], [[cerebellar hypoplasia]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[RELN]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[MRI]] | |||
| differential = Other forms of [[lissencephaly]], [[Miller-Dieker syndrome]] | |||
| treatment = [[Supportive care]], [[physical therapy]], [[occupational therapy]], [[anticonvulsants]] | |||
| prognosis = Poor, with significant developmental delays and neurological impairment | |||
| frequency = Rare | |||
}} | |||
== '''Alternate names''' == | == '''Alternate names''' == | ||
LIS2; Norman Roberts lissencephaly syndrome; Lissencephaly syndrome Norman-Roberts type | LIS2; Norman Roberts lissencephaly syndrome; Lissencephaly syndrome Norman-Roberts type | ||
== '''Definition''' == | == '''Definition''' == | ||
Lissencephaly 2 (Norman Roberts lissencephaly syndrome) is an inherited condition characterized by classical [[lissencephaly]] in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular [[hypertelorism]]). | Lissencephaly 2 (Norman Roberts lissencephaly syndrome) is an inherited condition characterized by classical [[lissencephaly]] in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular [[hypertelorism]]). | ||
== '''Cause''' == | == '''Cause''' == | ||
Mutations in the '''RELN gene''' have been identified in some affected individuals. | Mutations in the '''RELN gene''' have been identified in some affected individuals. | ||
== '''Inheritance''' == | |||
This condition is inherited in an autosomal recessive fashion. | This condition is inherited in an autosomal recessive fashion. | ||
== '''Symptoms''' == | == '''Symptoms''' == | ||
Abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head ([[occiput]]); a broad, prominent nasal bridge; and widely set eyes (ocular [[hypertelorism]]). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone ([[hypertonia]]), exaggerated reflexes ([[hyperreflexia]]), and severe growth failure. | Abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head ([[occiput]]); a broad, prominent nasal bridge; and widely set eyes (ocular [[hypertelorism]]). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone ([[hypertonia]]), exaggerated reflexes ([[hyperreflexia]]), and severe growth failure. | ||
Latest revision as of 06:13, 8 April 2025
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Obesity, Sleep & Internal medicine
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| Norman–Roberts syndrome | |
|---|---|
| |
| Synonyms | Lissencephaly type 1, Lissencephaly with cerebellar hypoplasia |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Severe intellectual disability, seizures, hypotonia, microcephaly, cerebellar hypoplasia |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the RELN gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, MRI |
| Differential diagnosis | Other forms of lissencephaly, Miller-Dieker syndrome |
| Prevention | N/A |
| Treatment | Supportive care, physical therapy, occupational therapy, anticonvulsants |
| Medication | N/A |
| Prognosis | Poor, with significant developmental delays and neurological impairment |
| Frequency | Rare |
| Deaths | N/A |
Alternate names[edit]
LIS2; Norman Roberts lissencephaly syndrome; Lissencephaly syndrome Norman-Roberts type
Definition[edit]
Lissencephaly 2 (Norman Roberts lissencephaly syndrome) is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism).
Cause[edit]
Mutations in the RELN gene have been identified in some affected individuals.
Inheritance[edit]
This condition is inherited in an autosomal recessive fashion.
Symptoms[edit]
Abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone (hypertonia), exaggerated reflexes (hyperreflexia), and severe growth failure.
NIH genetic and rare disease info[edit]
Norman–Roberts syndrome is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Norman–Roberts syndrome
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