Hydrocephalus, and Cerebellar vermis hypoplasia

Diseases related with Hydrocephalus and Cerebellar vermis hypoplasia

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Cerebellar vermis hypoplasia that can help you solving undiagnosed cases.

Top matches:

HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 3, formerly

Related symptoms:

  • Abnormal facial shape
  • Ventriculomegaly
  • Hydrocephalus
  • Cerebellar hypoplasia
  • Polyhydramnios


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3

Medium match B4GALT1-CDG

B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

B4GALT1-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iid|beta-1,4-galactosyltransferase deficiency|congenital disorder of glycosylation type 2d|cdg2d|cdg iid|congenital disorder of glycosylation type iid|cdgiid|cdg-iid|cdg syndrome type iid

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about B4GALT1-CDG

Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 3; MKS3 Is also known as meckel-gruber syndrome, type 3

Related symptoms:

  • Cleft palate
  • Hydrocephalus
  • Polydactyly
  • Postaxial polydactyly
  • Renal cyst


SOURCES: OMIM ORPHANET MENDELIAN

More info about MECKEL SYNDROME, TYPE 3; MKS3

Other less relevant matches:

X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscle weakness


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 Is also known as walker-warburg syndrome or muscle-eye-brain disease, large-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Cerebellar vermis hypoplasia

Symptoms // Phenotype % cases
Dandy-Walker malformation Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Cerebellar vermis hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Encephalocele Generalized hypotonia Seizures Elevated serum creatine phosphokinase Lissencephaly Microcephaly Intellectual disability, profound Abnormal facial shape Spasticity Renal cyst Agenesis of corpus callosum Muscular dystrophy Cataract Absent speech Occipital encephalocele Hypoplasia of the corpus callosum Congenital muscular dystrophy

Rare Symptoms - Less than 30% cases

Polymicrogyria Renal dysplasia Molar tooth sign on MRI Retinal dystrophy Anencephaly Intellectual disability, severe Myopia Holoprosencephaly Dilatation Polydactyly Severe global developmental delay Cerebellar cyst Cleft palate Muscular hypotonia Bile duct proliferation Postaxial polydactyly Postaxial hand polydactyly Retinal dysplasia Hepatic fibrosis Macrocephaly Microphthalmia Abnormality of the cerebral white matter Type II lissencephaly Severe muscular hypotonia Myopathy Blindness Cognitive impairment Hydronephrosis Cryptorchidism Decreased testicular size Heterotopia Buphthalmos Poor head control Agyria Opacification of the corneal stroma Micropenis Encephalopathy Hypoplasia of the brainstem Developmental regression Abnormality of dental color Amelogenesis imperfecta Coarse hair Abnormality of dental enamel Hypohidrosis Hypoplasia of dental enamel Broad thumb Progressive neurologic deterioration Hypsarrhythmia Epileptic encephalopathy Focal-onset seizure Smooth philtrum Mental deterioration Cortical dysplasia EEG abnormality Upslanted palpebral fissure Dementia High myopia Cerebral atrophy Motor delay Failure to thrive Ataxia Short stature Optic nerve dysplasia Renal cortical cysts Absent septum pellucidum Leukodystrophy Meningoencephalocele Cerebral calcification Multicystic kidney dysplasia Nystagmus Inferior vermis hypoplasia Partial agenesis of the corpus callosum Adducted thumb Aganglionic megacolon Intellectual disability, mild Muscle weakness Cystic renal dysplasia Stroke-like episode Hepatosplenomegaly Abnormality of coagulation Abnormality of the coagulation cascade Stroke Severe hydrocephalus Hydranencephaly Preeclampsia Brain atrophy Polyhydramnios Rod-cone dystrophy Intellectual disability, moderate Corneal opacity Flexion contracture Respiratory failure Glaucoma Frontoparietal polymicrogyria Diffuse white matter abnormalities Hypoplasia of the pons Areflexia Optic atrophy Feeding difficulties Agenesis of cerebellar vermis Abnormality of the eye Meningocele Bowing of the long bones Atrial septal defect Ventricular septal defect Intrauterine growth retardation Astigmatism Abnormality of eye movement Coloboma Yellow-brown discoloration of the teeth


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