cochlear hypoplasia and common cavity and cochlear aplasia. . Mondini C. Anatomia surdi nati sectio: De Bononiensi Scientiarum et. Mondini malformation is a historical term used to described incomplete partition abnormalities (Michel deformity, cochlear aplasia and cochlear hypoplasia). Mondini dysplasia. infection and inflammation Margarita Alvarez de la Rosa Rodríguez et al., Case Reports in Perinatal Medicine. Nicotine Replacement in.

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The bulk of the remaining genetic deafness is non-syndromic, meaning that it does not have any obvious distinguishing features.

Congenital ear malformations

Most of these disorders have been documented with genetic mapping. For this to work there must ds more than 10 affected members in a family. Marker analysis enables identification of the region of the genome where the disease gene lies.

Before we start talking about individual syndromes, inherited deafness is usually symmetrical and bilateral, nearly always sensorineural, and usually more severe at high frequencies. However, a particular pattern of hearing loss called the “cookie bite”generally suggests a genetic pattern — in other words, it is a fairly specific sign of a aplasla deafness pattern. It seems likely that outside of academic settings, cookie-bite hearing patterns are even more likely to be associated with inherited hearing loss.

In other words, although there are many many more papers about genetic syndromes than non-syndrome deafness, and lots more text on this page, these conditions that are the subject of so much discussion, are just a little piece to the big genetic hearing loss puzzle.

Between and38 loci for autosomal dominant nonsyndromic deafness have been mapped and 11 genes have been cloned. An update on current locii can be found on the hereditary hearing loss homepage, which is hosted by the University of Iowa.

Assays for connexin are commercially available at several laboratories. About 1 in 31 individuals of European extraction are likely carriers.

Mondini dysplasia

However, population analysis suggests that there are over genes involved in non-syndromic hearing impairment Morton, One mutation is particularly common, namely the 30delG.

Autosomal dominant deafness is passed directly through generations. It is often possible to identify an autosomal dominant pattern through simple inspection of the family tree. As an example of a deafness phenotype, in DFNA10 results in a postlingual, initially progressive, and resulting, without the influence of presbycusis, in largely stable, flat sensorineural deafness De Leenheer et al, Pennings et al, Mutations in the WFS1 gene are the most common form of dominant low frequency sensorineural hearing loss.

DFNB1 connexin 26 is the most common form of genetic hearing loss. It presents as prelingual deafness, sometimes with mild-to-moderate hearing loss.

There are no vestibular or radiographic abnormalities. It is caused by a mutation in the gap junction protein. This unusual type of genetic problem means that there is a mutation ap,asia necessarily the same in both copies of a particular gene paternal and paternal.

Maas et al reported on this rare syndrome in It should be thought of as a progressive deafness-dystonia syndrome with frequent liver involvement. Spasticity and dystonia ed common.

The MRI shows a patognomonic “putaminal eye”. Survival to adulthood is common. These are an immensely complicated interlinked set of disorders. The descriptions here are only to give the general flavor of the diseases and are not meant to include all features of the disorders.


In most cases an OMIM database link to the main type of the genetic disorder is provided. These are genes that affect collagen. The classic phenotype is renal failure and progressive sensorineural deafness. The hearing loss is bilateral and correlated with age Moon et al, There is no mndini of Alports and vertigo. Barakat syndrome, also known as HDR syndrome, is an inherited condition characterized by hypoparathyroidism, sensorineural deafness and renal disease Barakat et al in Patients usually present with hypocalcaemia, tetany, or afebrile convulsions at any age.

Hearing loss is usually bilateral and may range from mild to profound impairment. Renal disease includes nephrotic syndrome, renal dysplasia, hypoplasia or aplasia, chronic renal failure, hematuria, proteinuria and others. The frequency is unknown, but the disease is considered to be very rare. The defect is on moncini 10p Gene Map Locus: Inheritance is probably autosomal dominant. Management consists of treating the clinical abnormalities at the time of presentation.

Prognosis depends on the severity of the renal disease.

Branchio-oto-renal xe is caused by mutations in EYA1, a gene of 16 a;lasia within a genomic interval of kB. This syndrome is characterized by hearing disturbances and cataract, branchial cleft fistulae, and preauricular pits. Mondini malformations and related dysplasias may occur. The dominantly inherited form of X-linked CMT allasia caused by a mutation in the connexin 32 gene mapped to the Xq13 locus.

Usual clinical signs consist of a peripheral neuropathy combined with foot problems and “champagne bottle” calves.

Sensorineural deafness occurs in some. Stojkovic and others, Some of these patients have auditory neuropathy. As noted above, the connexin gene is also associated with a large percentage of cases of non-syndromic deafness. There are several other associated neuropathies and deafness syndromes. Autosomal recessive demyelinating neuropathy, autosomal dominant hereditary neuropathies type I and II, and X-linked hereditary axonal neuropathies with mental retardation are all associated with deafness Stojkovic and others, Fabry disease FD is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid Gb3 in tissues of kidney and heart as well as central and peripheral nervous system.

According to Koping et al”Sensorineural hearing loss was detected in Hearing loss is asymmetric, beginning unilaterally and affecting the contralateral ear later. Tinnitus was reported by It includes a complex of features including hemifacial microtia, otomandibar dysostosis, epibulbar lipodermoids, coloboma, and vertebral anomalies that stem from developmental vascular and genetic field aberrations. It has diverse etiologies and is not attributed to a single genetic locus.

The incidence is roughly 1 in 45, Scholtz et al, This hearing syndrome is associated with cardiac arrhythmias.

Cochlear anomalies (classification) | Radiology Reference Article |

There is prolongation of the QT interval, torsade de pointe arrhythmias turning of the points, in reference to the apparent alternating positive and negative QRS complexessudden syncopal episodes, and severe-to-profound sensorineural hearing loss.

Klippel-Feil KFS is a congenital anomaly of the cervical neck vertebrae. It manifests as a short neck, low hair line and limited neck mobility. It is associated with congenital anomalies of all three parts of the ear external, middle and inner ear as well as the IAC and vestibular aqueduct see below. There was no correlation between ear pathology and skeletal or extraskeletal anomalies.

In the “Large Vestibular Aqueduct syndrome” there is enlargement of the endolymphatic duct ED on figure above that connects the endolymphatic compartment blue above to the endolymphatic sac which lies just under the dura of the posterior fossa, ES above. See the page EVA on this condition.


Mohr-Tranebjaerg syndrome DFN-1 is an X-linked recessive syndromic hearing loss characterized by postlingual sensorineural deafness in childhood followed by progressive dystonia, spasticity, dysphagia and optic atrophy. The syndrome is caused by a mutation thought to result in mitochondrial dysfunction. It resembles a spinocerebellar degeneration called Fredreich’s ataxia which also may exhibit sensorineural hearing loss, ataxia and optic atrophy.

The cardiomyopathy characteristic of Freidreichs is not seen in Mohr-Tranebjaerg. Classic features include specific ocular symptoms pseudotumor of the retina, retinal hyperplasia, hypoplasia and necrosis of the inner layer of the retina, cataracts, phthisis bulbiprogressive sensorineural hearing loss, and mental disturbance, although less than one-half of patients are hearing impaired or mentally retarded. Classic features include Duane’s syndrome resembles a 6th nerve palsycongenital optic nerve hypoplasia, bilateral deafness, and “radial ray” malformation.

Pendred syndrome is one of the most common syndromic forms of deafness. In essence it is deafness associated with thyroid disease euthyroid goiter. Vestibular testingespecially rotatory testing if available, should be obtained in cases with known mutations. This is due to a mutation in the sulfate ion transporter, 7q It is autosomal recessive. Pendred is associated with large vestibular aqueduct syndrome see above as well as Mondini see below.

Note that many persons with thyroid problems have Meniere’s disease Brenner et al,and thus LVAS, Meniere’s and Pendred syndrome may all be interconnected. This is an option in persons who have appropriate symptoms or radiology. Although the SMA’s are not generally associated with hearing symptoms, a recent report suggests that the disorder caused by a mutation in TRPV4 can induce a neuropathy as well as hearing loss Oonk et al, Mutations in COL11 are the cause in Stickler syndrome.

This syndrome is characterized by hearing impairment, midface hypoplasia, progressive myopia in the first year of life and arthropathy. Treacher Collins syndrome is characterized by coloboma of the lower eyelid the upper eyelid is involved in Goldenhar syndromemicrognathia, microtia, hypoplasia of the zygomatic arches, macrostomia, and inferior displacement of the lateral canthi with respect to the medial canthi. Most persons with Turner syndrome have but a single copy of the X chromosome and no Y.

Aplasiaa two thirds of the Turner’s population has hearing loss, about evenly split between sensorineural and conductive types Ingeborg et al, Waardenburg syndrome WS is a largely autosomal dominant disorder characterised by pigmentary anomalies of the skin, hairs, eyes and various defects of other neural crest derived tissues Read and Newton, At least four types are recognized jondini the basis of clinical and genetic criteria.

Apaydin et al, The disorder is not very homogeneous, even within the same families. There are four WS subtypes.

More than different disease-causing mutations have been reported in many ethnic groups Chen et al, The MITF microphthalmia transcription factor is related mondinj the melanogenesis process i.