Hydrocephalus, and Heterotopia

Diseases related with Hydrocephalus and Heterotopia

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

Top matches:

Medium match BAND HETEROTOPIA; BH

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity


SOURCES: MESH OMIM MENDELIAN

More info about BAND HETEROTOPIA; BH

Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015).See also {602200} for a disorder characterized by ventriculomegaly and defects of the radius and kidney.

VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE Is also known as congenital nephrosis-cerebral ventriculomegaly syndrome|vmckd

Related symptoms:

  • Seizures
  • Ventricular septal defect
  • Ventriculomegaly
  • Hydrocephalus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE

Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.

CHUDLEY-MCCULLOUGH SYNDROME Is also known as dfnb82, formerly|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, autosomal recessive 82, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHUDLEY-MCCULLOUGH SYNDROME

Other less relevant matches:

Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

ARNOLD-CHIARI MALFORMATION TYPE II Is also known as cm2|arnold-chiari malformation|chiari malformation type ii|chiari malformation type 2|arnold-chiari malformation type 2

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE II

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

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

Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

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' (van Reeuwijk et al., 2005).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, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

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 alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).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, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Heterotopia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Heterotopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Encephalocele Polymicrogyria Global developmental delay Muscular dystrophy Lissencephaly Agenesis of corpus callosum Hypoplasia of the brainstem Macrocephaly Type II lissencephaly Dilatation Congenital muscular dystrophy Occipital encephalocele Partial agenesis of the corpus callosum Elevated serum creatine phosphokinase Cataract Hypoplasia of the corpus callosum Hearing impairment Renal cyst Spasticity Muscular hypotonia Postaxial polydactyly Polydactyly

Rare Symptoms - Less than 30% cases

Retinal dysplasia Glaucoma Peters anomaly Abnormality of the cerebral white matter Aplasia/Hypoplasia of the corpus callosum Pachygyria Intellectual disability, profound Cryptorchidism Microphthalmia Respiratory insufficiency Anencephaly Retrognathia Micropenis Frontal bossing Dandy-Walker malformation Cleft palate Weak cry Severe muscular hypotonia Gray matter heterotopias Intellectual disability, severe Cortical dysplasia Cerebellar dysplasia Cerebellar cyst Persistent pupillary membrane Moderate myopia Low-set ears Areflexia Deeply set eye Microtia Facial palsy Buphthalmos Retinal detachment Decreased fetal movement Large fontanelles Optic nerve hypoplasia Adducted thumb Gonadal dysgenesis Abnormality of the skeletal system Nystagmus Agyria Sleep disturbance Profound global developmental delay Neonatal hypotonia Cleft lip Hypermetropia Congenital cataract Cleft upper lip Macroglossia Cerebellar vermis hypoplasia Hypoplasia of the pons Behavioral abnormality Congenital contracture Skeletal muscle hypertrophy Congenital glaucoma Spinal rigidity Abnormality of the periventricular white matter Retinal atrophy Corpus callosum atrophy Hypertelorism Remnants of the hyaloid vascular system Abnormality of the wrist Short middle phalanx of finger Hallux valgus Tarsal synostosis Aplasia/Hypoplasia of the thumb Absent radius Broad foot Short columella Preaxial foot polydactyly Triphalangeal thumb Abnormality of the nose Patellar aplasia Absent tibia Premature atrial contractions Rudimentary to absent tibiae Limb duplication Fibular duplication Preaxial hand polydactyly Hand polydactyly Renal insufficiency Downturned corners of mouth Talipes equinovarus Syndactyly Prominent forehead Finger syndactyly Toe syndactyly Talipes Thin vermilion border Short foot Preaxial polydactyly Gliosis Limitation of joint mobility Prominent nose Underdeveloped nasal alae Depressed nasal ridge Abnormality of the face Abnormality of the metacarpal bones Ventricular septal defect Flexion contracture Myopia Neurodegeneration Mental deterioration Dysplastic corpus callosum Severe global developmental delay Spastic paraplegia Prelingual sensorineural hearing impairment Paraplegia Coma Optic atrophy Abnormal cerebellum morphology Tetraplegia Spastic tetraplegia Progressive neurologic deterioration Absence seizures Colpocephaly Leukoencephalopathy Gait disturbance Occipital neuralgia Arachnoid cyst Spina bifida Feeding difficulties Dysphagia Headache Apnea Paralysis Limb muscle weakness Cyanosis Arnold-Chiari malformation Cervical myelopathy Stridor Opisthotonus Large foramen magnum Syringomyelia Myelomeningocele Bulbar signs Inspiratory stridor Hemiplegia Infantile spasms Visual impairment Exotropia Ptosis Epicanthus Abnormality of the kidney Hypospadias Patent ductus arteriosus Polyhydramnios Abnormality of the pinna Narrow palpebral fissure Optic nerve dysplasia Sacral dimple Molar tooth sign on MRI Microcephaly Scoliosis Growth delay Muscle weakness Ataxia Premature birth Renal cortical cysts Severe sensorineural hearing impairment Hydronephrosis Porencephalic cyst Right hemiplegia Congenital sensorineural hearing impairment Cognitive impairment Blindness Bilateral sensorineural hearing impairment Intellectual disability, mild Abnormal facial shape Nephrotic syndrome Decreased testicular size Renal dysplasia Opacification of the corneal stroma Sensorineural hearing impairment Periventricular gray matter heterotopia Absent septum pellucidum Renal corticomedullary cysts Mirror image polydactyly


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