Hearing impairment, and Cerebellar hypoplasia

Diseases related with Hearing impairment and Cerebellar hypoplasia

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

Top matches:

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

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

Other less relevant matches:

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.

HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS Is also known as progressive external ophthalmoplegia and scoliosis|hgpps

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS

AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY Is also known as autosomal recessive spastic ataxia with leukoencephalopathy|spax3|autosomal recessive spastic ataxia type 3|arsal

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY

Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C Is also known as hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

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

OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY 11; OPA11

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27 Is also known as coxpd27

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27

Top 5 symptoms//phenotypes associated to Hearing impairment and Cerebellar hypoplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Hypoplasia of the corpus callosum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Cerebellar hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dystonia Short stature Generalized hypotonia Leukoencephalopathy Polymicrogyria Cerebral cortical atrophy Microcephaly Feeding difficulties Sensorineural hearing impairment Visual impairment Macrocephaly

Rare Symptoms - Less than 30% cases

Cognitive impairment Brain atrophy Intellectual disability, severe Hyperactivity Scoliosis Nystagmus Absent speech Muscular dystrophy Flexion contracture Failure to thrive Hypoplasia of the pons Mental deterioration Optic atrophy Cerebellar atrophy Cerebral atrophy Intellectual disability, moderate Dysmetria Muscle weakness Neurodegeneration Tetraparesis Heterotopia Motor delay Abnormal facial shape Ventriculomegaly Hydrocephalus Intellectual disability, mild Partial agenesis of the corpus callosum Cortical dysplasia Agenesis of corpus callosum Growth delay Dysarthria Bilateral sensorineural hearing impairment Gray matter heterotopias Myoclonus Postnatal microcephaly Severe global developmental delay Severe muscular hypotonia Spastic paraplegia Abnormality of the cerebral white matter Status epilepticus Paraplegia Gait disturbance Muscular hypotonia Ragged-red muscle fibers Cataract Opisthotonus Coma Microvesicular hepatic steatosis Hypoglycosylation of alpha-dystroglycan Oligohydramnios Inability to walk Elevated serum creatine phosphokinase Decreased activity of mitochondrial respiratory chain Hypertonia Generalized-onset seizure Spastic tetraplegia Abnormal cerebellum morphology Myopia Areflexia Encephalopathy Abnormality of the basal ganglia Facial diplegia Abnormality of mitochondrial metabolism Hyperkinesis Amblyopia Hepatic steatosis Chorea Increased serum lactate Hypermetropia Cleft palate Midface retrusion Strabismus Tetraplegia Right hemiplegia Type II lissencephaly Porencephalic cyst Occipital encephalocele Infantile spasms Hypoplasia of the brainstem Hemiplegia Epileptic encephalopathy Lissencephaly Absence seizures Encephalocele Progressive neurologic deterioration Abnormality of movement Macrotia Peripheral neuropathy Spinal muscular atrophy Postnatal growth retardation Narrow forehead Sloping forehead Highly arched eyebrow Neurological speech impairment Attention deficit hyperactivity disorder Proptosis Delayed speech and language development Central hypothyroidism Glucose intolerance Progressive hearing impairment Type I diabetes mellitus Polyneuropathy Abnormal pyramidal sign Hypoglycemia Prominent glabella Hypothyroidism Diabetes mellitus Hypogonadism Pes cavus Large foramen magnum Dysplastic corpus callosum Prelingual sensorineural hearing impairment Cerebellar dysplasia Colpocephaly Arachnoid cyst Severe sensorineural hearing impairment Congenital sensorineural hearing impairment Dilatation Cortical gyral simplification Hypoplasia of the frontal lobes Spastic tetraparesis Facial myokymia Cerebellar vermis hypoplasia Respiratory failure Mild hearing impairment Spastic ataxia Spastic dysarthria Urinary urgency Horizontal nystagmus Progressive cerebellar ataxia Gait ataxia Hyperreflexia Spasticity Horizontal supranuclear gaze palsy Progressive ophthalmoplegia Saccadic smooth pursuit Small cerebral cortex Myokymia Pendular nystagmus Thoracolumbar scoliosis Progressive external ophthalmoplegia Congenital nystagmus External ophthalmoplegia Abnormality of eye movement Ophthalmoplegia Paralysis Kyphosis Short neck Unilateral polymicrogyria Thick corpus callosum Multifocal epileptiform discharges


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