What syndrome causes small ears

In medicine, syndromes are diseases in which various disease symptoms are present in a typical combination. They can result from chromosomal abnormalities or gene mutations. Chromosomal abnormalities include too many, too few or broken chromosomes. In the case of gene mutations, certain base pairs in the chromosome are exchanged. All of this can be examined on your child. If you would like to know more about it, e.g. whether the syndrome can be inherited, please let us know human genetic to advise! The German Society for Human Genetics or your nearest practice or clinic for phoniatrics and pediatric audiology will inform you where possible.

Since the genes for the construction of the auricle, auditory canal, middle ear, inner ear, auditory nerve and brain are distributed on many chromosomes, a wide variety of hearing disorders can also be expected in a large number of syndromes. (The same applies to the organ of vision, by the way.) Since hearing, just like seeing and touching, is indispensably important for development, especially language development, it should Hearing and eyesight tested for each syndrome become. Please do not forget that hearing, seeing and feeling provide the most important information for learning and finding one's way around the environment; Smell and taste are more important for emotional development. Many children develop much better after improving their hearing (e.g. ear tubes, hearing aids) and optimizing their eyesight (e.g. glasses) than is recorded in some reference works on syndromes! It can therefore be assumed that some "developmental disorders" or "mental handicaps" are actually due to an inadequately treated sensory handicap.

Changes in the auricle
Children with syndromes sometimes have auricular shape abnormalities. The functional effects are only minor, i.e. the hearing loss for sound from the front is only a few decibels. The cosmetic effects can, for example, be alleviated with plastic surgery (by ear, nose and throat specialists) or with so-called epitheses. General advice is not possible. Please speak to your phoniatrist and pediatric audiologist about this.

Changes in the ear canal
Many children with syndromes have very narrow ear canals. In and of itself, this is not a problem, as the sound can also be transmitted through narrow ear canals. However, the self-repulsion of the ear wax (cerumen) is hindered, so that narrow ear canals are occasionally blocked and the children hear less. In such children, the ear canals should be regularly cleared of cerumen by a specialist (ear, nose and throat doctor or phoniatrist and pediatric audiologist). This is also important when children with narrow ear canals wear hearing aids. Please speak to your phoniatrist and pediatric audiologist about this.

Changes and diseases of the middle ear
Syndromes can cause two types of middle ear problems: Firstly, congenital middle ear malformations that permanently hinder the transport of sound into the inner ear. Such hearing impairments can either be treated with hearing aids, or the middle ear can be "repaired" surgically. Second, for various reasons, children with syndromes are more likely to have middle ear effusions than healthy children. These can be treated with a removal of the pharynx (but never in the case of cleft palate or soft soft palate!) And with ventilation tubes. Please speak to your phoniatrist and pediatric audiologist about this.

Changes and diseases of the inner ear
Inner ear hearing loss is treated with hearing aids. Acoustic hearing aids are usually sufficient. Depending on the type of hearing loss, so-called BTE devices (behind-the-ear devices), bone conduction headband hearing aids, are suitable for children. In the case of severe hearing impairment or deafness, electrical hearing aids (cochlear implants) can also be used. This surgical procedure is carried out by an ear, nose and throat specialist. Please speak to your phoniatrist and pediatric audiologist about this.

Changes and diseases of the auditory nerve and brain
The auditory nerve and brain are responsible for preprocessing, further processing and perceiving what is heard. Especially children who also have anatomical abnormalities in the brain area or are developmentally retarded have hearing processing and perception disorders.

You can find detailed and well-founded information about almost all inheritable syndromes on the OMIM homepage (in English).
From phoniatric-pedaudiological experience, important information must be added about some syndromes that is missing in some reference works on syndromes:

DiGeorge syndrome (synonym: DiGeorge sequence)
The mandibular hypoplasia in DiGeorge syndrome (see also OMIM) leads to oral motor disorders including middle ear ventilation disorders. Inner ear hearing loss is not typical of this syndrome. Self-help group: http://www.kids-22q11.de

Down syndrome (English, pronounced Daun syndrome; synonym: Down's disease, trisomy 21; no longer use, as stigmatizing: Mongolism, even worse: Mongolian !!!)
Down syndrome is one of the most common congenital syndromes. It is a trisomy of chromosome 21, i.e. chromosome 21 is present three times instead of two. If this is only the case in a part of the body cells and not in all, it is called a "mosaic trisomy 21". The symptoms are then usually not as pronounced.

Around 90% of children with Down syndrome have variable and reciprocal middle ear hearing loss and tympanic effusions. The tympanic effusions are sometimes permanent for several months, sometimes only for a few weeks or even only days. Nevertheless, the (language) development is significantly disturbed because the continuity of normal hearing is interrupted and the children perceive the language to be learned differently. This is why this hearing loss should be safely eliminated, usually with a removal of the racxhen tonsil (adenotomy). Since many children continue to have ear effusions even after an adenotomy because of the simultaneous disruption of their oral motor skills, the procedure should be planned with the insertion of a ventilation tube! If ventilation tubes are necessary for several years, permanent ones are available.
Some children (around 10%) have additional, mostly mild, inner ear hearing loss that requires hearing aids. These are sometimes not detected during the first diagnosis, especially if the ear effusions have been detected. This is why children with Down's syndrome must at least once again check their hearing and, if necessary, adjust hearing aids, especially after the ear effusions have been removed.

When hearing and eyesight are optimized, many children with Down syndrome can develop amazingly well!

Children with Down syndrome often have severe oral motor development disorders, usually in the context of central paralysis (so-called infantile cerebral palsy). In the mouth area this is expressed by salivation ("drooling"), drinking weakness, powerless biting and chewing. In addition, in many children with Down syndrome, the tongue is not in the closed mouth, but between the teeth in the open mouth. This should be treated early with drinking and eating therapy or orofacial regulation therapy (e.g. with a speech therapist). Another possibility is to make a special mouth plate (stimulation according to Castillo-Morales). Please speak to your phoniatrist and pediatric audiologist about whether such treatment is an option for your child.

Further information is available in self-help groups (2, 3, 4, 5, 6, a selection).

EEC syndrome
For the EEC syndrome, what has been said about the formation of clefts essentially applies. Further information is available in a self-help group.

Franceschetti syndrome (it., Pronounced: Frankes-Ketti syndrome; synonym: Treacher-Collins syndrome, English, pronounced: Tritscher-Kollins syndrome)
For Franceschetti syndrome, what has been said about the formation of clefts essentially applies.

Moebius syndrome (dt., Pronounced: Möbius syndrome)
Moebius syndrome is a disruption of the last switching station of various cranial nerves before they leave the brain stem and move to the respective supply area. The paralysis leads to severe oral motor disorders with disorders of sucking, chewing, swallowing, middle ear ventilation (changing middle ear hearing loss) and learning to speak. Since the paralysis is located relatively far on the periphery, exercise therapy is often unsatisfactory. Still, it should be tried.

In addition to the changing middle ear hearing loss caused by tympanic effusions, there are sometimes congenital narrowing of the ear canal, middle ear malformations and inner ear hearing loss, which can make hearing diagnosis considerably more difficult and delayed. This is in the nature of the disease! Several examination appointments are often necessary, also with the derivation of evoked potentials after a ventilation tube has been inserted under anesthesia, in order to be able to reliably exclude or prove an inner ear hearing loss.

Further information is available in a self-help group.

Pierre Robin Syndrome (French; Synonym: Pierre Robin Sequence)
Children with Pierre Robin Syndrome have a cleft palate and a too small, recessed lower jaw. The cleft palate causes problems with ventilation in the middle ear, tympanic effusions and middle ear hearing loss. They can be remedied by inserting (permanently lingering) ear tubes. Additional inner ear hearing loss is rare. The children's impaired oral motor skills can be treated with exercise therapy. Surgical relocation and enlargement of the lower jaw is required in some children. This procedure is performed by an oral and maxillofacial surgeon. Please talk to your phoniatrist and pediatric audiologist about whether such an operation is an option for your child.

Prader-Willi Syndrome
In addition to the mental developmental disorder in children with Prader-Willi syndrome, reduced motor skills, especially oral motor skills, are noticeable. In infancy, there are sucking and drinking weaknesses. This can be influenced by exercise therapy if necessary. Further information is available in a self-help group.

Silver Russell Syndrome
Some children with Silver Russell syndrome have a cleft palate and the associated hearing and speech problems. The voice is often too high. Language development is strongly determined by the mental and motor development potential. Further information is available in a self-help group.

Wiedemann-Beckwith syndrome
In children with Wiedemann-Beckwith syndrome, the open jaw with the tongue hanging out is noticeable. The upper and lower jaws are too small, which underlines the impression that the tongue is much too big (so-called macroglossia). However, it is assumed that the impression is deceptive. Orofacial regulation therapy or drinking and eating therapy can sometimes close the mouth.

Due to the impaired oral motor skills, tympanic effusions are to be expected, which can impair hearing and hearing development. Therefore, if necessary, you should not hesitate to use a ventilation tube. Some children also have inner ear hearing loss and need hearing aids.

Overall, however, the language development potential of children with Wiedemann-Beckwith syndrome is determined by the severely restricted mental and motor development.

Williams-Beuren Syndrome
Children with Williams-Beuren syndrome have malformations of the teeth and lower jaw, which can cause oral motor disorders and middle ear ventilation disorders. Some children have an inner ear hearing loss. A deep, sometimes hoarse voice is also noticeable. Oral motor disorders can be treated with exercise therapy. Ejaculation from the ear should be treated with ear tubes in good time. Inner ear hearing loss is treated with hearing aids. The change in voice does not need to be addressed. Further information is available in a self-help group.