Hearing impairment, and Heterotopia

Diseases related with Hearing impairment and Heterotopia

In the following list you will find some of the most common rare diseases related to Hearing impairment and Heterotopia 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

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

Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 21; JBTS21

Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Heterotopia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases
Polymicrogyria Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Hypoplasia of the corpus callosum Strabismus Generalized hypotonia Abnormal facial shape Sensorineural hearing impairment Absent speech Short stature Lissencephaly Hydrocephalus Ptosis Encephalocele Occipital encephalocele Gray matter heterotopias Muscular hypotonia Microcephaly Macrocephaly Intellectual disability, severe Cortical dysplasia Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases

Depressed nasal bridge Joint stiffness Deeply set eye Abnormal pyramidal sign Coloboma Inability to walk Short nose Brachydactyly Flexion contracture Cryptorchidism Cleft palate Toe syndactyly Frontal bossing Kyphosis Ataxia Hypospadias Patent ductus arteriosus Polydactyly Micropenis Retrognathia Abnormality of the pinna Abnormal corpus callosum morphology Renal cyst Cerebellar atrophy Dysarthria Hypertelorism Delayed speech and language development Molar tooth sign on MRI Short foot Infantile spasms Hypoplasia of the brainstem Pachygyria Absence seizures Optic atrophy EEG abnormality Dilatation Motor delay Growth delay Single naris Retinopathy Apraxia Dandy-Walker malformation Pulmonary hypoplasia Retinal degeneration Platyspondyly Narrow chest Apnea Dyspnea Large fontanelles Micromelia Flat face Intellectual disability, profound Split hand Abnormality of the metaphysis Nystagmus Bowing of the long bones Cerebellar vermis hypoplasia Decreased liver function Hepatic fibrosis Atrial septal defect Wide anterior fontanel Posterior fossa cyst Wide cranial sutures Hyperechogenic kidneys Hydranencephaly Abnormal pattern of respiration Bell-shaped thorax Respiratory insufficiency Proptosis Abnormality of the kidney Nephronophthisis Anophthalmia Tachypnea Oculomotor apraxia Short ribs Cerebellar malformation Polyhydramnios Skeletal dysplasia Elongated superior cerebellar peduncle Anteverted nares Acanthosis nigricans Plagiocephaly Downturned corners of mouth Everted lower lip vermilion Generalized myoclonic seizures Febrile seizures Convex nasal ridge Epileptic encephalopathy Open mouth Broad-based gait Stereotypy Short chin Optic nerve hypoplasia Thick eyebrow Tented upper lip vermilion Cupped ear Poor eye contact Abnormality of the periventricular white matter Large earlobe Agenesis of cerebellar vermis Periventricular leukomalacia Abnormality of nervous system morphology Happy demeanor Hemiclonic seizures Frontal cortical atrophy Iris coloboma Generalized tonic-clonic seizures Redundant skin Feeding difficulties Femoral bowing Aplasia/Hypoplasia of the lungs Short femur Hypoplastic ilia Cloverleaf skull Excessive wrinkled skin Increased nuchal translucency Short sacroiliac notch Abnormality of the sacroiliac joint Lethal short-limbed short stature Low-set ears Downslanted palpebral fissures Broad forehead Encephalopathy Myoclonus Upslanted palpebral fissure Hyperactivity Autism High forehead Macrotia Protruding ear Autistic behavior Attention deficit hyperactivity disorder Short philtrum Short corpus callosum Wide nose Abnormality of the spinal cord Bifid uvula Leukoencephalopathy Hemiplegia Porencephalic cyst Type II lissencephaly Right hemiplegia Micrognathia Myopia Syndactyly Muscular hypotonia of the trunk 2-3 toe syndactyly Spastic tetraplegia Abnormality of neuronal migration Epicanthus Postaxial polydactyly Exotropia Narrow palpebral fissure Sacral dimple Anencephaly Cognitive impairment Tremor Hyporeflexia Progressive neurologic deterioration Tetraplegia Coarse facial features Dysplastic corpus callosum Intellectual disability, mild Bilateral sensorineural hearing impairment Congenital sensorineural hearing impairment Partial agenesis of the corpus callosum Severe sensorineural hearing impairment Arachnoid cyst Colpocephaly Cerebellar dysplasia Prelingual sensorineural hearing impairment Large foramen magnum Abnormal cerebellum morphology Cataract Gait disturbance Mental deterioration Muscular dystrophy Severe global developmental delay Spastic paraplegia Abnormality of the cerebral white matter Paraplegia Neurodegeneration Coma Gait ataxia Dysmetria Duodenal atresia Intellectual disability, moderate Pointed chin Trigonocephaly Long palpebral fissure Retinal coloboma Failure to thrive Spasticity Wide nasal bridge Intrauterine growth retardation Severe short stature Craniosynostosis Webbed neck Poor speech Sloping forehead Tetraparesis Spastic tetraparesis Unilateral renal agenesis Mild short stature Multiple joint contractures Ectopic kidney Severe failure to thrive Cardiorespiratory arrest Postnatal microcephaly Highly arched eyebrow Short palm Abnormality of the neck Hirsutism Small hand Brain atrophy Intention tremor Truncal ataxia Intellectual disability, progressive Dysdiadochokinesis Global brain atrophy Thoracic scoliosis Thoracic kyphosis Atrophy of the dentate nucleus Oral cleft Aplasia of the inferior half of the cerebellar vermis Short neck Long philtrum Microphthalmia Abnormal heart morphology Thin upper lip vermilion Telecanthus Cleft lip Wide mouth Arthrogryposis multiplex congenita Periventricular white matter hyperdensities


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