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Congenital anomalies of the ear

Author: Glenn C Isaacson, MD, FAAP
Section Editors: Anna H Messner, MD, Helen V Firth, DM, FRCP, FMedSci
Deputy Editor: Carrie Armsby, MD, MPH

All topics are updated as new evidence becomes available and our peer review process is complete.

Literature review current through: Jul 2021. | This topic last updated: Nov 11, 2019.

INTRODUCTION

Congenital anomalies result from errors in embryogenesis (malformations) or intrauterine

events that affect embryonic and fetal growth (deformations and disruptions) [1]. The
more complex the formation of a structure, the more opportunities for malformation.

The embryology, clinical features, and management of congenital anomalies of the ear
are reviewed here. Many of these abnormalities are associated with hearing loss. The
evaluation and management of hearing loss in children in discussed separately:

● (See "Screening the newborn for hearing loss".)

● (See "Hearing loss in children: Etiology".)
● (See "Hearing loss in children: Screening and evaluation".)
● (See "Hearing loss in children: Treatment".)
:
EMBRYOLOGY

Outer ear — The auricle or pinna is formed from the fusion of six raised soft tissue
swellings (hillocks) on the surface of the embryo. Three of these hillocks are derived from
the first branchial arch (Meckel) and three from the second branchial arch (Reichert)
during the fifth and sixth weeks of intrauterine life. Growth of the fused tissues, guided by
the pull of the intrinsic muscles of the ear, creates the folds of the helix, antihelix, and
tragus ( figure 1).

The ear canal is formed from an invagination of surface epithelium in the fifth week of
intrauterine life. This was thought to represent a vestige of the first branchial cleft;
however, fate mapping studies and evidence from transgenic mice with the duplicated
auricular structures suggest instead that it results from a distinct invagination within the
first branchial arch [2].

The solid core of cells meets a similar evagination from the pharynx, trapping a layer of
mesothelium in between ( figure 2). Fusion of these cells at the juncture results in the
formation of the three layers of the tympanic membrane ( figure 3). Recanalization of
the external ear canal occurs in the second trimester and is complete at approximately 28
weeks gestation; vernix-like material is left behind [3].

Middle ear — The ossicles are formed by condensation of mesenchyme derived from the
first and second branchial arches. Cartilage develops and gradually is replaced by bone
in the second and third trimesters ( picture 1). The ossicles are near adult size and
adult ossification at the time of birth. Cartilage remains only at the articulations.

The cavity of the middle ear forms when endoderm evaginating from the first pharyngeal
pouch invades the mesoderm of the middle ear. This pouch narrows to form the lining of
the Eustachian tube near the nasopharynx and spawns fingerlike projections that
surround the developing ossicles. The lateral-most projection of endoderm creates the
inner layer of the tympanic membrane. Tympanic membrane retractions that cause
cholesteatomas later in life follow the paths of these mucosal invaginations [4]. (See
"Cholesteatoma in children".)

At birth, the middle ear is narrow and contains residual mesenchyme and amniotic fluid.
Within minutes of birth and spontaneous breathing, air enters the Eustachian tube,
:
displacing amniotic fluid to create a pneumatized cavity. Some mesenchyme persists
beneath the mucosal of the middle ear for up to five years after birth [5].

Inner ear — Inner ear morphogenesis requires a highly coordinated and complex pattern
of growth. The cochlea and vestibular system are derived from epithelium that migrates
deep from within the embryonic surface early in development. This epithelium forms a
fluid-filled cyst called the otic vesicle. The otic vesicle folds, spirals, and elongates to form
the membranous labyrinth ( picture 2). Neural cells arising in the eighth cranial nerve
invade the labyrinth. By the end of the second trimester, the inner ear is developed
sufficiently to transduce vibratory energy into neural impulses that are transmitted to the
brain [6].

GENETICS

The genes involved with ear development remain poorly understood. A number of genes
have been found to be important for the development of the outer and middle ears,
including HMX1, TCOF1 and EYA1. They often affect more than one part of the ear, and
defects in these genes can result in complete loss of the outer and middle ear structures.
Mutations in some of these genes (eg, TCOF1) are associated with human craniofacial
syndromes (eg, Treacher Collins syndrome) ( table 1) [7]. (See "Syndromes with
craniofacial abnormalities".)

Several genes have been identified that control otic capsule formation, growth, and
neural connection. HDAC1 has emerged as an important regulator of cell proliferation
and cell survival. In animal models, the absence of HDAC1 can lead to failed inner ear
development [8]. SOX2 has been shown to be critical for sensory development in the
inner ear [9].

OUTER EAR MALFORMATIONS

Microtia — Incomplete development and growth of the pinna can lead to a small or
deformed pinna (microtia) or absent pinna (anotia).

● Definition and epidemiology – In unilateral cases, microtia is defined as a size

discrepancy between ears that exceeds normal variation (ie, >10 percent difference)
:
 [10]. The right side is affected more commonly than the left. Bilateral microtia is
defined as a length of the external ear that is more than 2 standard deviations below
the mean [11]. In severe cases, the pinna is completely absent (anotia). Microtia and
anotia occur in 1 to 3 per 10,000 births [12].

● Association with genetic syndromes – Microtia and anotia may occur in isolation
or in association with genetic syndromes and other malformations, including facial
clefts, cardiac defects, limb anomalies, renal anomalies, and holoprosencephaly
[12,13]. Microtia is a common finding in children with Treacher-Collins syndrome and
craniofacial microsomia (also called Goldenhar syndrome, hemifacial microsomia,
oculo-auriculo-vertebral spectrum, and first and second branchial arch syndrome).
(See "Syndromes with craniofacial abnormalities", section on 'Treacher Collins
syndrome' and "Syndromes with craniofacial abnormalities", section on 'Craniofacial
microsomia'.)

Numerous other microtia-associated syndromes have been reported ( table 1);

these may be associated with single-gene defects or chromosomal abnormalities
[14]. Genetic factors also appear to play an important role in isolated, nonsyndromic
cases [15]. In a series of 145 cases, more than two-thirds were sporadic and
approximately one-third were familial [13]. Among the familial cases, autosomal
dominant inheritance was most common, but cases with autosomal recessive and
multifactorial inheritance were also noted.

● Other risk factors – Microtia and anotia occur more frequently in boys, at increased
altitude, with increasing birth order, in infants of diabetic mothers, and infants with
prenatal exposure to isotretinoin, thalidomide, alcohol, or mycophenolate [12,16-19].

● Classification – Several different classification systems for microtia have been

proposed [14]. In the Marx system, type I microtia is characterized as a generally
well-formed, perceptibly smaller auricle. In type II microtia, the pinna is malformed
and 50 to 66 percent smaller than the contralateral pinna. In grade III microtia, the
auricle is severely malformed and usually exhibits a peanut shape ( picture 3) [20].

● Evaluation – Evaluation of infants with microtia and anotia includes audiologic

testing and thorough examination to identify associated defects. In some cases,
imaging may be warranted to detect associated abnormalities of the external
:
 auditory canal, middle, and inner ear [21].

Appropriate consultations in the neonatal period include a clinical geneticist, pediatric

audiologist, pediatric otolaryngologist, or a pediatric plastic surgeon. Although
surgical correction of unilateral defects seldom is undertaken until the child reaches
6 to 10 years of age, these consultations are important to identify other abnormalities
and to provide reassurance for the families. Long-term management may include
audiology, particularly if there is associated external auditory canal atresia (aural
atresia). Amplification devices are beneficial for children with hearing loss [22]. (See
"Hearing loss in children: Treatment".)

● Surgical repair – A minor abnormality of the pinna may not require correction. When
the pinna is grossly deformed or absent, reconstruction often is warranted for
cosmetic reasons. Traditional autologous cartilage repairs are undertaken when the
child is 6 to 10 years of age, after the pinna has reached 80 percent of its adult size.
Alloplastic repairs can be performed at a younger age [23].

Microtia repair with autologous cartilage is complex and often requires several
stages [24]. A cartilage framework, usually derived from costal cartilage, is created
and anchored beneath the skin of the mastoid area. Once it is well attached to
surface skin, a postauricular crease is created in a second operation. Additional
procedures often are employed for "fine-tuning." Even in the best hands, the complex
structure of the external ear is difficult to duplicate, and cosmetic results vary widely.

Reconstruction with synthetic auricular frameworks has gained in popularity, given

the difficulty of creating an aesthetically pleasing auricle from autologous cartilage.
This procedure is usually done in a single stage using a temporoparietal fascial flap
to cover the artificial scaffold, which has reduced the rate of implant exposure and
extrusion [25]. Research into customized three-dimensional scaffolds is ongoing [26].
The placement of a prosthetic auricle anchored with an osteointegrated peg remains
an option [27].

Minor pinna malformations — Numerous descriptive and eponymous terms are used to
classify auricular anomalies including cryptotia, prominent ear, lop ear, Stahl ear, crinkled
ear, and many other subtle auricular variants ( picture 4) [28].

Traditionally, these anomalies have been treated surgically during childhood by various
:
operative techniques with variable results. However, many of these minor anomalies can
be treated nonsurgically with molding during the newborn period ( picture 4). When
molding is performed immediately after birth, shorter periods of stenting are needed. It is
hypothesized that hyaluronic acid is elevated by circulating estrogens in the first weeks
after birth, accounting for the malleable nature of the newborn ear [29].

Protruding ears usually result from incomplete formation of the antihelical fold (
picture 5). This abnormality has no functional significance. However, children with
protruding ears sometimes are teased or bullied by their peers. For more severe cases,
otoplasty can be performed later in childhood, typically when the child is four to six years
old. The most common procedures involve the excision of skin from the posterior surface
of the auricle and the placement of permanent sutures to reposition the ear and create an
antihelical fold [30]. These techniques provide high rates of patient and family satisfaction
[31]. Complications occur in 0 to 8 percent of otoplasties and include hematomas,
perichondritis, suture extrusion, and keloid formation. Residual deformity and asymmetry
of the two ears may occur [32].

Preauricular pits — Preauricular pits are small indentations located anterior to the helix
and superior to the tragus of the ear (bilateral in 25 to 50 percent of cases) ( picture 6).
They are quite common, noted in approximately 1 percent of White children, 5 percent of
Black children, and 10 percent of Asian children [33]. The prevalence is considerably
higher in some family lineages [33]. Associated congenital anomalies occur in
approximately one-third of the sporadic cases [34].

Infants with preauricular pits should have formal audiologic evaluation [35]. The risk of
permanent hearing loss in children with preauricular pits or tags is five times that of the
general population [35]. (See "Hearing loss in children: Screening and evaluation",
section on 'Formal audiology'.)

The incidence of renal anomalies in patients with isolated preauricular pits does not differ
substantially from that in the general population [36,37]. (See 'Association with renal
anomalies' below.)

Preauricular pits may be the first indication of branchio-oto-renal (BOR) syndrome, one of
the most common causes of hereditary hearing loss ( picture 7). BOR is an autosomal
dominant syndrome; most cases are due to mutations in the EYA1 and SIX1 genes [38].
:
It is characterized by sensorineural hearing loss (SNHL), preauricular pits, branchial cysts
or tracts, malformed ears, and renal anomalies, including renal dysplasia and bifid renal
pelvises [39]. (See "Renal hypodysplasia", section on 'Genetic disorders'.)

Preauricular pits do not require surgery unless they become repeatedly infected or
discharge squamous material ( picture 6) [33]. If surgery is performed, it should include
excision of the pit, the squamous-lined cyst usually present beneath the skin ( picture 8
), and the cartilage at the root of the helix en bloc to avoid recurrence ( picture 9) [40].

Accessory auricular appendage/preauricular tag — Accessory appendages

composed of skin, subcutaneous fat, and/or cartilage may occur near the auricle or
anywhere along the anterior border of the sternocleidomastoid muscle ( picture 10).
When they occur in the preauricular area, they are called preauricular tags.

Accessory auricular appendages and preauricular tags usually are removed in childhood
for cosmetic purposes. Excision with plastic surgical closure provides better results than
neonatal ligation with suture or rubber bands because the lesions typically extend into
subcutaneous tissue planes [41].

Children with accessory auricular appendages may have associated unilateral hearing
loss and should undergo newborn hearing screening [35]. (See "Screening the newborn
for hearing loss".)

Accessory auricular appendages, particularly at the tragus, with or without associated

microtia may appear as part of the oculo-auriculo-vertebral spectrum (also called
Goldenhar syndrome, hemifacial microsomia, facio-auriculo-vertebral spectrum, and first
and second branchial arch syndrome). Preauricular tags may be seen in other genetic
syndromes (eg, Townes-Brocks syndrome, branchio-oto-renal syndrome) [2,14]. (See
"Syndromes with craniofacial abnormalities", section on 'Craniofacial microsomia'.)

Ear anomalies in CHARGE and DiGeorge syndromes — The external ear may have a
characteristic appearance in these syndromes:

● CHARGE syndrome – In children with CHARGE syndrome (coloboma, heart

defects, atresia choanae, retardation of growth and/or development, genital and/or
urinary abnormalities, ear abnormalities and deafness), the ears are typically
asymmetric between sides, have reduced vertical height, and have a cup-shaped,
:
 wide helix ( picture 11) [42]. Aplasia and hypoplasia of the semicircular canals are
common and are often associated with balance and postural abnormalities [43].

● DiGeorge syndrome – Children with DiGeorge syndrome (also called 22q11.2

deletion syndrome or velocardiofacial syndrome) typically have a thick/overfolded
helix and slightly low-set ears [44]. (See "DiGeorge (22q11.2 deletion) syndrome:
Clinical features and diagnosis".)

Aural atresia (external auditory canal atresia) — Failure of complete invagination of

the external auditory canal results in an absent or stenotic ear canal and improper
formation of the eardrum. Failure of recanalization results in membranous stenosis or
atresia ( picture 12).

Formation of the malleus and incus occurs at the same time as invagination of the
external auditory canal. Thus children with aural atresia commonly have associated
abnormalities of these ossicles, particularly fusion of the incus and malleus to each other
or to atretic bone in the auditory canal.

Children who have unilateral external auditory canal atresia may not require surgery if the
pinna is well formed and the contralateral ear has normal hearing [45]. The use of a
bone-conduction/bone-anchored hearing aid in a child with unilateral aural atresia
remains controversial. A bone-anchored aid may decrease head-shadow effect (ie,
difficulty hearing sounds coming from the direction of the affected side) but does not
normalize localization of sound [46]. Amplification is important if the child has hearing
loss in the contralateral ear. The effect of unilateral hearing loss in aural atresia on
learning remains controversial [47].

Many children with external auditory canal atresia have normal middle ears and can
develop acute otitis media (AOM). Children with aural atresia should be treated with
antibiotics if AOM is suspected clinically because the diagnosis cannot be confirmed
through otoscopy [22,48]. (See "Acute otitis media in children: Treatment", section on
'Initial antimicrobial therapy'.)

Children with unrepaired aural atresia/stenosis also have a risk of developing middle ear
cholesteatoma. Persistent ear pain or fever may be the only clues to this condition, which
is diagnosed with computed tomography (CT) ( image 1). (See "Cholesteatoma in
children".)
:
Bilateral aural atresia is associated with a maximal conductive hearing loss
(approximately 60 dB) and requires early intervention. Children with bilateral aural atresia
should be fit with a bone-conduction hearing aid within weeks of birth to assist with early
language acquisition [49]. (See "Hearing loss in children: Treatment", section on 'Bone
conduction hearing devices'.)

Surgery to correct aural atresia usually is performed toward the end of the first decade of
life, when substantial mastoid development has occurred. Surgery entails the creation of
a new ear canal and ear drum, providing a skin lining for the canal and drum, and
mobilizing or repositioning the ossicles to allow transmission of sound. Surgery is more
likely to be successful if extensive pneumatization of the mastoid air cells is present and
the stapes is mobile. One of the major risks of this surgery is injury to the facial nerve or
the dura of the middle cranial fossa. Thus, the procedure should be performed by an
experienced otologist and with electrophysiologic facial nerve monitoring. Other
complications include chronic myringitis, prosthesis displacement, SNHL, soft-tissue
stenosis and tympanic membrane lateralization [50]. Revision surgery is required in
approximately 25 percent of cases [50]. The new ear canal often requires cleaning and
care for life [51]. The bone-anchored hearing aid is an alternative for patients who are not
candidates for aural atresiaplasty because of unfavorable anatomy or personal
preference [52]. Devices that avoid a transcutaneous peg may improve patient
acceptance of bone-anchored aids [53].

MIDDLE EAR MALFORMATIONS

Congenital malformations of the ossicles may cause conductive hearing loss. Ossicular
and other middle ear malformations occur as part of syndromes (eg, Treacher-Collins,
branchio-oto-renal, Stickler, velocardiofacial (DiGeorge), Beckwith-Wiedemann) and
occasionally as isolated events.

The most common abnormalities of the ossicles are fixation of the malleus and/or incus,
incudostapedial discontinuity, and stapes fixation. These defects in the middle ear's
conducting mechanism cause hearing losses ranging from minor to maximal (60dB) and
have important effects on communication and learning. Each of these abnormalities is
surgically correctable; correction of stapes fixation is most likely to fail because of the
delicate attachment of the stapes to the inner ear [54].
:
INNER EAR MALFORMATIONS

The cochlea arises from a cystic invagination of surface epithelium (the otocyst) that pulls
away from the vestibular portion of the inner ear during the first trimester and forms an
elongating spiral. Failure of development along this pathway results in a wide variety of
congenital malformations, many of which affect hearing. Several classifications systems
have been purposed and modified based on hypoplasia or aplasia of cochleovestibular
structures [55].

The classic Michel and Mondini anomalies can be detected with high-resolution
computed tomography (CT) or magnetic resonance imaging (MRI) [56-59]. The Michel
malformation occurs when the labyrinth is absent or reduced to a single cystic cavity. The
Mondini malformation is present when cochlear growth is arrested at less than one
complete turn (2.75 turns is normal) ( picture 13). It is associated with complete
deafness and vestibular malformations [60,61].

Minor abnormalities in the labyrinthine structure also can result in partial or progressive
hearing loss. Enlarged vestibular aqueduct syndrome is the most common inner ear
malformation. It may affect one or both ears ( image 2) [62,63]. The hearing loss in
children with large vestibular aqueduct syndrome may be sensorineural or mixed [64].
Some patients have normal hearing at birth, followed by progressive or fluctuating
hearing loss. Sudden hearing loss may occur spontaneously or after minor head trauma.
The degree of hearing loss is related to the extent of dilation of the vestibular aqueduct
[65].

Children with genetic sensorineural hearing loss (SNHL) have a high incidence of minor
malformations of the semicircular canals, cochlea, and internal auditory canal [66].
Hypoplasia of the semicircular canals is common in patients with CHARGE syndrome
[67]. Pendred syndrome is one of the most common syndromic causes of SNHL. It is
characterized by severe-to-profound bilateral SNHL that is usually congenital (or
prelingual) and nonprogressive, vestibular dysfunction, temporal bone abnormalities, and
development of euthyroid goiter in late childhood to early adulthood. (See "Hearing loss
in children: Etiology", section on 'Hereditary'.)

Autosomal recessive deafness with enlarged vestibular aqueduct (DFNB4) is caused by

mutations in SLC26A4 and, less commonly, double heterozygous mutations of
:
FOXI1/SLC26A4 and KCNJ10/SLC26A4. DFNB4 is characterized by nonsyndromic
sensorineural hearing impairment, vestibular dysfunction, and enlarged vestibular
aqueduct EVA. Thyroid defects are not seen in DFNB4 [68].

ASSOCIATION WITH RENAL ANOMALIES

We suggest that renal ultrasound be performed in children with ear anomaly

accompanied by any of the following:

● Other malformations or dysmorphic features

● Family history of deafness or auricular or renal malformations
● Maternal history of gestational diabetes

In addition, some experts suggest that renal ultrasound be performed in children with
isolated preauricular pit or cup ear [69]. However, this recommendation is controversial.

Children with external ear anomalies, particularly preauricular pits and cup ears, have a
slightly increased risk of renal anomalies [70-72]; however, the incidence of renal
anomalies in patients with isolated preauricular pits (ie, without other malformations or
dysmorphic features) appears to be similar to that in the general population [36,37].
External ear malformations and renal anomalies occur in several multiple congenital
anomaly (MCA) syndromes, including:

● Branchio-oto-renal [BOR] syndrome

● Coloboma of the eye, heart anomalies, choanal atresia, retardation, genital and ear
anomalies [CHARGE] syndrome
● Townes-Brocks syndrome
● Nager syndrome
● Miller syndrome
● Diabetic embryopathy (see "Infants of women with diabetes")

In a prospective study, 108 out of 17,286 infants born at a single medical center during a
four-year period had isolated preauricular tags or pits [36]. The infants were examined by
a geneticist to confirm the absence of other congenital anomalies and underwent renal
ultrasonography at one to three months of age. Their ultrasonography findings were
compared with those of 95 healthy infants who underwent ultrasonography on the second
:
day of life. The prevalence of renal abnormalities was similar between groups (2.2 and
3.1 percent in cases and controls, respectively). The abnormalities included mild
pyelectasis (in two cases and three controls) and renal calculus (in one control). The
authors concluded that renal ultrasonography is not indicated in infants with isolated
preauricular pits or tags.

In a retrospective report of 42 children with ear anomalies (including preauricular pits or

tags, microtia, anotia, cup, lop, or other dysplastic ear) who were referred for genetics
evaluation at one of two tertiary medical centers, 33 (79 percent) were diagnosed with a
MCA syndrome, and the remaining 9 had isolated ear anomalies (most commonly
preauricular pits) [69]. One-third of children with MCA syndromes had abnormalities on
renal ultrasound compared with only one of the nine children with isolated ear anomalies.

SUMMARY

● Congenital outer ear anomalies include microtia, minor pinna malformations (eg,
helix, crinkled ear, Stahl ear ( picture 4),and protruding [lop] ear ( picture 5)),
preauricular pits ( picture 6), accessory auricular appendages/preauricular tags (
picture 10), and aural/external auditory canal atresia ( picture 12). (See 'Outer
ear malformations' above.)

● Congenital middle ear anomalies include malformations of the ossicles (eg, fixation
or incudostapedial discontinuity) and may result in conductive hearing loss. Ossicular
malformations may occur as part of a syndrome or in isolation. (See 'Middle ear
malformations' above.)

● Congenital inner ear anomalies include the Michel and Mondini malformations and
the enlarged vestibular aqueduct syndrome. (See 'Inner ear malformations' above.)

● External ear malformations and renal anomalies occur in several multiple congenital
anomaly syndromes. We suggest that renal ultrasonography be performed in
children with ear anomaly and any of the following:

• Other malformations or dysmorphic features

• Family history of deafness or auricular or renal malformations
• Maternal history of gestational diabetes (see 'Association with renal anomalies'
:
 above)
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Topic 6299 Version 21.0

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