Sensorineural hearing impairment, and Polymicrogyria

Diseases related with Sensorineural hearing impairment and Polymicrogyria

In the following list you will find some of the most common rare diseases related to Sensorineural hearing impairment and Polymicrogyria 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

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

Other less relevant matches:

Low match CEDNIK SYNDROME

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Low match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI 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

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30 Is also known as coxpd30

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Feeding difficulties
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30

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

Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Polymicrogyria

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

Other less frequent symptoms

Patients with Sensorineural hearing impairment and Polymicrogyria. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hypoplasia of the corpus callosum Agenesis of corpus callosum Ventriculomegaly Heterotopia Short stature Muscular hypotonia Failure to thrive Depressed nasal bridge Cataract Intellectual disability, severe Severe global developmental delay Feeding difficulties Pulmonary hypoplasia Optic atrophy Decreased liver function Abnormal facial shape Macrocephaly Epicanthus Hypospadias Hypertelorism Wide nasal bridge Nystagmus High palate Cerebellar vermis hypoplasia Acidosis Feeding difficulties in infancy Cortical dysplasia Growth delay Anteverted nares Micrognathia

Rare Symptoms - Less than 30% cases

Spasticity Peripheral neuropathy Severe failure to thrive Epiphyseal stippling Motor delay Respiratory insufficiency Bell-shaped thorax Narrow forehead Flat face Occipital encephalocele Ventricular hypertrophy Progressive neurologic deterioration Left ventricular hypertrophy Malar flattening Respiratory failure Upslanted palpebral fissure Intellectual disability, progressive Congestive heart failure Abnormality of the dentition Areflexia High, narrow palate Cleft lip Cleft palate Elevated hepatic transaminase Ichthyosis Cerebral cortical atrophy EEG abnormality Pachygyria Progressive microcephaly Hypoplasia of the brainstem Congenital cataract Rhizomelia Prominent nasal bridge Congenital sensorineural hearing impairment Recurrent infections Abnormality of the pinna Highly arched eyebrow Visual impairment Low-set ears Open mouth Gray matter heterotopias Cerebellar dysplasia Ptosis Severe sensorineural hearing impairment Partial agenesis of the corpus callosum Aplasia/Hypoplasia of the corpus callosum Ataxia Dilatation Renal cyst Hydrocephalus Large fontanelles Encephalocele Recurrent fungal infections Recurrent aspiration pneumonia Coma Hypopigmentation of the fundus Paraplegia Neurodegeneration Right hemiplegia Abnormality of the cerebral white matter Cryptorchidism Spastic paraplegia Cognitive impairment Decreased proportion of CD4-positive T cells Abnormality of the mandible Abnormal cerebellum morphology Hemiplegia Pontocerebellar atrophy Tetraplegia Granulocytopenia Abnormal posturing Spastic tetraplegia Mental deterioration Absence seizures Lissencephaly Type II lissencephaly Leukoencephalopathy Porencephalic cyst Infantile spasms Muscular dystrophy Hyperactivity Gait disturbance Cortical gyral simplification Aplasia/Hypoplasia of the macula Ureteral atresia Immunoglobulin IgG2 deficiency Penile hypospadias Hypoplasia of the frontal lobes Prominent glabella Sloping forehead Small cerebral cortex Neurological speech impairment Attention deficit hyperactivity disorder Hepatomegaly Severe T-cell immunodeficiency White matter neuronal heterotopia Acute bronchitis Delayed speech and language development Decreased T cell activation Cutaneous anergy Hyperalaninemia Abnormality of the liver Abnormality of the optic disc Proptosis Increased CSF lactate Abnormality of the thymus Ragged-red muscle fibers Increased serum lactate Lactic acidosis Abnormality of the cerebellar vermis Abnormal immunoglobulin level Muscle flaccidity Gastroesophageal reflux Unilateral polymicrogyria Thick corpus callosum Abnormal macular morphology Schizencephaly Frontoparietal polymicrogyria Intellectual disability, moderate Premature birth Abnormality of the skeletal system Posterior embryotoxon Abnormality of the mitochondrion Labial hypoplasia Redundant neck skin Abnormality of the helix Breech presentation Thickened nuchal skin fold Adrenal hypoplasia External ear malformation Ulnar deviation of the hand Primary adrenal insufficiency Underdeveloped supraorbital ridges Protruding tongue Prolonged neonatal jaundice Congenital glaucoma Abnormality of coagulation Abnormality of neuronal migration Metatarsus adductus Profound global developmental delay Tapetoretinal degeneration Rocker bottom foot Renal cortical microcysts Intrahepatic biliary dysgenesis Sudanophilic leukodystrophy Very long chain fatty acid accumulation Elevated long chain fatty acids Subependymal cysts Hyperoxaluria Brushfield spots Albuminuria Hepatic cysts Abnormal chorioretinal morphology Renal cortical cysts Ulnar deviation of the hand or of fingers of the hand Widely patent fontanelles and sutures Glutaric aciduria Intestinal lymphangiectasia Brachyturricephaly Abnormality of the tongue Flat occiput Clitoral hypertrophy Ventricular septal defect Glaucoma Stage 5 chronic kidney disease Malabsorption Corneal opacity Hydronephrosis Jaundice Skeletal dysplasia High forehead Prominent forehead Single transverse palmar crease Posteriorly rotated ears Delayed skeletal maturation Hyporeflexia Visual loss Patent ductus arteriosus Encephalopathy Renal insufficiency Talipes equinovarus Hepatic failure Macroglossia Cubitus valgus Aminoaciduria Pyloric stenosis Polycystic kidney dysplasia Abnormal electroretinogram Reduced tendon reflexes Severe muscular hypotonia Opacification of the corneal stroma Nephrocalcinosis Multicystic kidney dysplasia Round face Leukodystrophy Wide anterior fontanel Hypoplasia of dental enamel Cholestasis Optic disc pallor Pigmentary retinopathy Aciduria Hypoplasia of the thymus Cellular immunodeficiency Thick vermilion border Recurrent viral infections Abnormality of eye movement Short chin Depressed nasal ridge Nephrotic syndrome Palmoplantar keratoderma Polyneuropathy Long face Dolichocephaly Abnormality of vision Stroke Abnormality of the eye Proteinuria Macrotia Hypogonadism Downslanted palpebral fissures Single naris Poor head control Palmoplantar hyperkeratosis Elongated superior cerebellar peduncle Atrial septal defect Pulmonic stenosis Kyphoscoliosis Severe short stature Alopecia Hernia Abnormality of metabolism/homeostasis Frontal bossing Abnormality of peripheral nerve conduction Flexion contracture Pain Scoliosis Optic disc hypoplasia Diffuse palmoplantar keratoderma Perisylvian polymicrogyria Abnormal corpus callosum morphology Cerebellar malformation Posterior fossa cyst Short distal phalanx of finger Absent speech Dilation of lateral ventricles Enlarged cisterna magna Low hanging columella Long palpebral fissure Stereotypy Eczema Behavioral abnormality Dysgenesis of the cerebellar vermis Large foramen magnum Dysplastic corpus callosum Prelingual sensorineural hearing impairment Colpocephaly Arachnoid cyst Bilateral sensorineural hearing impairment Intellectual disability, mild Dilated fourth ventricle Strabismus Wide cranial sutures Oculomotor apraxia Hyperechogenic kidneys Hydranencephaly Abnormal pattern of respiration Nephronophthisis Molar tooth sign on MRI Anophthalmia Tachypnea Short ribs Polydactyly Hepatic fibrosis Apraxia Dandy-Walker malformation Retinal degeneration Retinopathy Apnea Dyspnea Dry skin Limitation of joint mobility Abnormal cortical gyration Lymphopenia Adducted thumb Infantile muscular hypotonia Leukopenia Recurrent bacterial infections Increased body weight Aspiration Abnormality of retinal pigmentation Albinism Decreased body weight Hypotelorism Decreased antibody level in blood Delayed myelination Sepsis Triangular face Hypopigmentation of the skin Poor suck Combined immunodeficiency Sleep disturbance Aspiration pneumonia Chronic mucocutaneous candidiasis Hypoplasia of the pons Fair hair Renal tubular dysfunction Ocular albinism Depressed nasal tip IgG deficiency Neurodevelopmental delay Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Neutropenia Wide nose Limb undergrowth Polysplenia Calcific stippling of infantile cartilaginous skeleton Bilateral cleft palate Coronal cleft vertebrae Multiple epiphyseal dysplasia Delayed CNS myelination Concave nasal ridge Sparse body hair Muscle weakness Flared metaphysis Congenital contracture Epiphyseal dysplasia Spina bifida occulta Abnormality of epiphysis morphology Abnormality of the metaphysis Congenital diaphragmatic hernia Pregnancy exposure Hyperreflexia Cleft upper lip Rod-cone dystrophy Dilated cardiomyopathy Joint stiffness Respiratory tract infection Postnatal growth retardation Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Coarse facial features Recurrent respiratory infections Respiratory distress Pneumonia Immunodeficiency Long philtrum Hypertonia Cerebellar atrophy Myopathy Cardiomyopathy Hypoplastic olfactory lobes


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