Hearing impairment, and Agenesis of corpus callosum

Diseases related with Hearing impairment and Agenesis of corpus callosum

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

Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69 Is also known as spg69

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Cataract
  • Intellectual disability, mild
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69

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:

Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.

FETAL METHYLMERCURY SYNDROME Is also known as methyl mercury antenatal infection|minamata disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Muscular hypotonia
  • Visual impairment


SOURCES: MESH ORPHANET MENDELIAN

More info about FETAL METHYLMERCURY SYNDROME

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-6 is a bicoronal form associated with bony defects in the sagittal, metopic, or lambdoid sutures (Twigg et al., 2015).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 6; CRS6

Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. 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 Stevens 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, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

Top 5 symptoms//phenotypes associated to Hearing impairment and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Agenesis of corpus callosum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment Short stature Scoliosis Macrocephaly Visual impairment Generalized hypotonia Abnormal facial shape Partial agenesis of the corpus callosum Retrognathia Cerebellar hypoplasia Coloboma

Rare Symptoms - Less than 30% cases

Hypertelorism Highly arched eyebrow Muscular hypotonia Retinal coloboma Lissencephaly Microphthalmia Short neck Ptosis Abnormality of the pinna Feeding difficulties Cleft palate Downslanted palpebral fissures Abnormal heart morphology Polyhydramnios High forehead Low-set ears Hypoplasia of the corpus callosum Cortical dysplasia Bilateral sensorineural hearing impairment Cerebral cortical atrophy Intellectual disability, mild Hydrocephalus Cataract Heterotopia Polymicrogyria Prominent nasal bridge Iris coloboma Choanal atresia Spastic dysarthria Cupped ear Broad neck Optic nerve coloboma Long philtrum Thin upper lip vermilion Telecanthus Cleft lip Dilatation Pectus excavatum Patent ductus arteriosus Laryngeal hypoplasia Tracheomalacia Microglossia Stenosis of the external auditory canal Hyperplasia of the maxilla Mandibular aplasia Hypoplasia of the epiglottis Alobar holoprosencephaly Wide mouth Proboscis Aglossia Synotia Nystagmus High palate Ventricular septal defect Joint stiffness Wide nose Arthrogryposis multiplex congenita CNS hypomyelination Cerebellar vermis hypoplasia Encephalocele Progressive microcephaly Respiratory insufficiency due to muscle weakness Arnold-Chiari malformation Poor head control Congenital muscular dystrophy Retinal degeneration Hypoplasia of the brainstem Occipital encephalocele Hypoventilation Abnormally large globe Type II lissencephaly Agyria High myopia Poor speech Oral cleft Long palpebral fissure Atresia of the external auditory canal Webbed neck Pachygyria Postnatal microcephaly Pointed chin Trigonocephaly Muscle weakness Severe global developmental delay Flexion contracture Myopia Elevated serum creatine phosphokinase Glaucoma Reduced visual acuity Neonatal hypotonia Muscular dystrophy Transposition of the great arteries Situs inversus totalis Abnormality of the outer ear Dysplastic corpus callosum Thick corpus callosum Unilateral polymicrogyria Abnormality of movement Large foramen magnum Gray matter heterotopias Strabismus Cerebellar atrophy Hypoplasia of the frontal lobes Brachycephaly Prelingual sensorineural hearing impairment Craniosynostosis Dandy-Walker malformation Low anterior hairline Spina bifida Small cerebral cortex Prominent glabella Plagiocephaly Intellectual disability, severe Aplasia/Hypoplasia of the cerebellar vermis Hand tremor Progressive spastic paraplegia Growth delay Delayed speech and language development Motor delay Hyperactivity Cortical gyral simplification Proptosis Intellectual disability, moderate Attention deficit hyperactivity disorder Neurological speech impairment Lower limb spasticity Sloping forehead Narrow forehead Spina bifida occulta Delayed cranial suture closure Holoprosencephaly Conductive hearing impairment Talipes equinovarus Respiratory distress Atrial septal defect Posteriorly rotated ears Narrow mouth Congenital sensorineural hearing impairment Abnormality of the eye Arachnoid cyst Anal atresia Pulmonary hypoplasia Hypoplasia of the maxilla Intestinal malrotation Hypotelorism Abnormal myelination Severe sensorineural hearing impairment Colpocephaly Turricephaly Dystonia Anterior plagiocephaly Spasticity Cerebellar dysplasia Optic atrophy Dysphagia Respiratory insufficiency Encephalopathy Micrognathia Myoclonus Muscular hypotonia of the trunk Developmental regression Hypsarrhythmia Cerebral visual impairment Progressive encephalopathy Hypoplasia of the pons Cortical cataract


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Alopecia, related diseases and genetic alterations Cognitive impairment and Alopecia, related diseases and genetic alterations Peripheral neuropathy and Kyphosis, related diseases and genetic alterations Sensorineural hearing impairment and Aganglionic megacolon, related diseases and genetic alterations Sensorineural hearing impairment and Elevated serum creatine phosphokinase, related diseases and genetic alterations Leukemia and Rhizomelia, related diseases and genetic alterations