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Lissencephaly type 1, due to LIS 1 anomalies Direct access to data Alias Agyria - pachygyria - polymicrogyria Lissencephaly type 1, isolated Miller-Dieker syndrome (lissencephaly due to chromosome 17p13.3 deletion) Summary Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. MDS is undoubtedly a rare condition with a reported estimate of 11.7 cases per million live births, although incidence and prevalence are probably higher. Children with MDS present with severe developmental delay, usually have epilepsy, and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Management of children with MDS is symptomatic. To avoid the complications of feeding and swallowing problems (poor nutritional state, aspiration pneumonia), nasogastric tubes and gastrostomies (a more long-term solution) can be utilised. Seizure control is important. *Author: Dr D. Pilz (April 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-MDS.pdf Clinical signs Anteverted nares Cerebral cortex atrophy Cerebral gyral defect/lissencephaly Difficulties for feeding in infancy E.E.G.abnormality Epicanthic folds High forehead Midface anomalies Mouth/lip/philtrum anomalies Seizures ( any type) Short/small nose Cardiac anomalies Polyhydramnios Ataxia/incoordination Clinodactyly of fifth finger Corpus callosum/pellucidum agenesis Omphalocele/exomphalos Renal disease Sacral sinus/dimple Talipes-varus/valgus Update : 15/04/2007

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Lissencephaly type 1, due to LIS 1 anomalies Direct access to data Alias Agyria - pachygyria - polymicrogyria Lissencephaly type 1, isolated Miller-Dieker syndrome (lissencephaly due to chromosome 17p13.3 deletion) Summary Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. MDS is undoubtedly a rare condition with a reported estimate of 11.7 cases per million live births, although incidence and prevalence are probably higher. Children with MDS present with severe developmental delay, usually have epilepsy, and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Management of children with MDS is symptomatic. To avoid the complications of feeding and swallowing problems (poor nutritional state, aspiration pneumonia), nasogastric tubes and gastrostomies (a more long-term solution) can be utilised. Seizure control is important. *Author: Dr D. Pilz (April 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-MDS.pdf Clinical signs Anteverted nares Cerebral cortex atrophy Cerebral gyral defect/lissencephaly Difficulties for feeding in infancy E.E.G.abnormality Epicanthic folds High forehead Midface anomalies Mouth/lip/philtrum anomalies Seizures ( any type) Short/small nose Cardiac anomalies Polyhydramnios Ataxia/incoordination Clinodactyly of fifth finger Corpus callosum/pellucidum agenesis Omphalocele/exomphalos Renal disease Sacral sinus/dimple Talipes-varus/valgus Update : 22/04/2007

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Lissencephaly type 1, due to LIS 1 anomalies Direct access to data Alias Agyria - pachygyria - polymicrogyria Lissencephaly type 1, isolated Miller-Dieker syndrome (lissencephaly due to chromosome 17p13.3 deletion) Summary Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. MDS is undoubtedly a rare condition with a reported estimate of 11.7 cases per million live births, although incidence and prevalence are probably higher. Children with MDS present with severe developmental delay, usually have epilepsy, and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Management of children with MDS is symptomatic. To avoid the complications of feeding and swallowing problems (poor nutritional state, aspiration pneumonia), nasogastric tubes and gastrostomies (a more long-term solution) can be utilised. Seizure control is important. *Author: Dr D. Pilz (April 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-MDS.pdf Clinical signs Anteverted nares Cerebral cortex atrophy Cerebral gyral defect/lissencephaly Difficulties for feeding in infancy E.E.G.abnormality Epicanthic folds High forehead Midface anomalies Mouth/lip/philtrum anomalies Seizures ( any type) Short/small nose Cardiac anomalies Polyhydramnios Ataxia/incoordination Clinodactyly of fifth finger Corpus callosum/pellucidum agenesis Omphalocele/exomphalos Renal disease Sacral sinus/dimple Talipes-varus/valgus Update : 29/04/2007

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Lissencephaly type 1, due to LIS 1 anomalies Direct access to data Alias Agyria - pachygyria - polymicrogyria Lissencephaly type 1, isolated Miller-Dieker syndrome (lissencephaly due to chromosome 17p13.3 deletion) Summary Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. MDS is undoubtedly a rare condition with a reported estimate of 11.7 cases per million live births, although incidence and prevalence are probably higher. Children with MDS present with severe developmental delay, usually have epilepsy, and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Management of children with MDS is symptomatic. To avoid the complications of feeding and swallowing problems (poor nutritional state, aspiration pneumonia), nasogastric tubes and gastrostomies (a more long-term solution) can be utilised. Seizure control is important. *Author: Dr D. Pilz (April 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-MDS.pdf Clinical signs Anteverted nares Cerebral cortex atrophy Cerebral gyral defect/lissencephaly Difficulties for feeding in infancy E.E.G.abnormality Epicanthic folds High forehead Midface anomalies Mouth/lip/philtrum anomalies Seizures ( any type) Short/small nose Cardiac anomalies Polyhydramnios Ataxia/incoordination Clinodactyly of fifth finger Corpus callosum/pellucidum agenesis Omphalocele/exomphalos Renal disease Sacral sinus/dimple Talipes-varus/valgus Update : 06/05/2007

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Lissencephaly type 1, due to LIS 1 anomalies Direct access to data Alias Agyria - pachygyria - polymicrogyria Lissencephaly type 1, isolated Miller-Dieker syndrome (lissencephaly due to chromosome 17p13.3 deletion) Summary Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. MDS is undoubtedly a rare condition with a reported estimate of 11.7 cases per million live births, although incidence and prevalence are probably higher. Children with MDS present with severe developmental delay, usually have epilepsy, and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Management of children with MDS is symptomatic. To avoid the complications of feeding and swallowing problems (poor nutritional state, aspiration pneumonia), nasogastric tubes and gastrostomies (a more long-term solution) can be utilised. Seizure control is important. *Author: Dr D. Pilz (April 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-MDS.pdf Clinical signs Anteverted nares Cerebral cortex atrophy Cerebral gyral defect/lissencephaly Difficulties for feeding in infancy E.E.G.abnormality Epicanthic folds High forehead Midface anomalies Mouth/lip/philtrum anomalies Seizures ( any type) Short/small nose Cardiac anomalies Polyhydramnios Ataxia/incoordination Clinodactyly of fifth finger Corpus callosum/pellucidum agenesis Omphalocele/exomphalos Renal disease Sacral sinus/dimple Talipes-varus/valgus Update : 13/05/2007

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Lissencephaly type 1, due to LIS 1 anomalies Direct access to data Alias Agyria - pachygyria - polymicrogyria Lissencephaly type 1, isolated Miller-Dieker syndrome (lissencephaly due to chromosome 17p13.3 deletion) Summary Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. MDS is undoubtedly a rare condition with a reported estimate of 11.7 cases per million live births, although incidence and prevalence are probably higher. Children with MDS present with severe developmental delay, usually have epilepsy, and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Management of children with MDS is symptomatic. To avoid the complications of feeding and swallowing problems (poor nutritional state, aspiration pneumonia), nasogastric tubes and gastrostomies (a more long-term solution) can be utilised. Seizure control is important. *Author: Dr D. Pilz (April 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-MDS.pdf Clinical signs Anteverted nares Cerebral cortex atrophy Cerebral gyral defect/lissencephaly Difficulties for feeding in infancy E.E.G.abnormality Epicanthic folds High forehead Midface anomalies Mouth/lip/philtrum anomalies Seizures ( any type) Short/small nose Cardiac anomalies Polyhydramnios Ataxia/incoordination Clinodactyly of fifth finger Corpus callosum/pellucidum agenesis Omphalocele/exomphalos Renal disease Sacral sinus/dimple Talipes-varus/valgus Update : 20/05/2007

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Lissencephaly type 1, due to LIS 1 anomalies Direct access to data Alias Agyria - pachygyria - polymicrogyria Lissencephaly type 1, isolated Miller-Dieker syndrome (lissencephaly due to chromosome 17p13.3 deletion) Summary Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. MDS is undoubtedly a rare condition with a reported estimate of 11.7 cases per million live births, although incidence and prevalence are probably higher. Children with MDS present with severe developmental delay, usually have epilepsy, and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Management of children with MDS is symptomatic. To avoid the complications of feeding and swallowing problems (poor nutritional state, aspiration pneumonia), nasogastric tubes and gastrostomies (a more long-term solution) can be utilised. Seizure control is important. *Author: Dr D. Pilz (April 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-MDS.pdf Clinical signs Anteverted nares Cerebral cortex atrophy Cerebral gyral defect/lissencephaly Difficulties for feeding in infancy E.E.G.abnormality Epicanthic folds High forehead Midface anomalies Mouth/lip/philtrum anomalies Seizures ( any type) Short/small nose Cardiac anomalies Polyhydramnios Ataxia/incoordination Clinodactyly of fifth finger Corpus callosum/pellucidum agenesis Omphalocele/exomphalos Renal disease Sacral sinus/dimple Talipes-varus/valgus Update : 27/05/2007

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Lissencephaly type 1, due to LIS 1 anomalies Direct access to data Alias Agyria - pachygyria - polymicrogyria Lissencephaly type 1, isolated Miller-Dieker syndrome (lissencephaly due to chromosome 17p13.3 deletion) Summary Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. MDS is undoubtedly a rare condition with a reported estimate of 11.7 cases per million live births, although incidence and prevalence are probably higher. Children with MDS present with severe developmental delay, usually have epilepsy, and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Management of children with MDS is symptomatic. To avoid the complications of feeding and swallowing problems (poor nutritional state, aspiration pneumonia), nasogastric tubes and gastrostomies (a more long-term solution) can be utilised. Seizure control is important. *Author: Dr D. Pilz (April 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-MDS.pdf Clinical signs Anteverted nares Cerebral cortex atrophy Cerebral gyral defect/lissencephaly Difficulties for feeding in infancy E.E.G.abnormality Epicanthic folds High forehead Midface anomalies Mouth/lip/philtrum anomalies Seizures ( any type) Short/small nose Cardiac anomalies Polyhydramnios Ataxia/incoordination Clinodactyly of fifth finger Corpus callosum/pellucidum agenesis Omphalocele/exomphalos Renal disease Sacral sinus/dimple Talipes-varus/valgus Update : 03/06/2007

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Lissencephaly type 1, due to LIS 1 anomalies Direct access to data Alias Agyria - pachygyria - polymicrogyria Lissencephaly type 1, isolated Miller-Dieker syndrome (lissencephaly due to chromosome 17p13.3 deletion) Summary Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition. MDS is undoubtedly a rare condition with a reported estimate of 11.7 cases per million live births, although incidence and prevalence are probably higher. Children with MDS present with severe developmental delay, usually have epilepsy, and feeding problems are common. The lissencephaly represents the severe end of the spectrum with generalized agyria, or agyria and some frontal pachygyria. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Management of children with MDS is symptomatic. To avoid the complications of feeding and swallowing problems (poor nutritional state, aspiration pneumonia), nasogastric tubes and gastrostomies (a more long-term solution) can be utilised. Seizure control is important. *Author: Dr D. Pilz (April 2005)*. Full text http://www.orpha.net/data/patho/GB/uk-MDS.pdf Clinical signs Anteverted nares Cerebral cortex atrophy Cerebral gyral defect/lissencephaly Difficulties for feeding in infancy E.E.G.abnormality Epicanthic folds High forehead Midface anomalies Mouth/lip/philtrum anomalies Seizures ( any type) Short/small nose Cardiac anomalies Polyhydramnios Ataxia/incoordination Clinodactyly of fifth finger Corpus callosum/pellucidum agenesis Omphalocele/exomphalos Renal disease Sacral sinus/dimple Talipes-varus/valgus Update : 10/06/2007

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