Dysplastic Ears: Causes & Reasons

Possible Causes for Dysplastic Ears

[…] skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic [malacards.org]

ears, and high-arched palate (summary by Wang et al., 2009). [ncbi.nlm.nih.gov]

Roberts Syndrome

ears, including hypoplastic lobes brain malformations skeletal phocomelia tetramelia asymmetrical limb reduction oligodactyly syndactyly flexion joint contractures renal [radiopaedia.org]

ears. [rarediseases.org]

[…] or small ears, and cataracts or cloudy cornea. [elsevier.es]

Chromosome 16q22 Deletion Syndrome

Note the dysplastic, small, and deeply set ears with a single left sided preauricular appendage, and retrognathia. [jmg.bmj.com]

The ears were dysplastic, small, and deeply set with a single, left sided preauricular tag. The fetus had left sided cleft lip and palate. The chest was narrow. [jmg.bmj.com]

The latter includes prominent forehead, wide anterior fontanel, diastasis of cranial sutures, blepharostenosis, ocular hypertelorism, apparently low-set and deformed ears, [docksci.com]

Raine Syndrome

The details of death is unavailable Brazilian Case 2: Short fingers Case 1,2,3: Dysplastic ears, midface hypoplasia, exophthalmos, Case 1,2,3: Dental caries, calculus, severe [bmcmedgenet.biomedcentral.com]

[…] dyssegmental, dysspondyloenchondromatosis, dyssynostosis, dystasia, dystonia, dystonia-parkinsonism, dystonias, dystrophies, dystrophinopathy, dystrophy, E eagle-barret, eales, ear [rapsodyonline.eurordis.org]

[…] and posteriorly angulated ears with prominent lobule. [bmcmedgenet.biomedcentral.com]

Dubowitz Syndrome

ABSTRACT Dubowitz syndrome is an inherited disorder with intrauterine and postnatal growth retardation, characteristic dysmorphic fades, and dysplastic ears. [tandfonline.com]

Dysplastic Ears : abnormally developed or poorly formed ears - the external part of the ear may not be folded as much as usual or may be pointed. [ric.edu]

Epicanthal folds Dysplastic ears that is mild Lower jaw small Facial skin eczema Sparse scalp hair Flexural areas eczema Delayed teeth eruption Dental caries Syndactyly of [syndrome.org]

Monosomy 9p

9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic [orpha.net]

[…] small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical [orpha.net]

Chromosome 18p Deletion Syndrome

The main clinical manifestations are mental retardation, growth retardation, craniofacial dysmorphism including round face, dysplastic ears, wide mouth and dental anomalies [omim.org]

[…] canals 39 Inguinal hernia 4 Congenital heart disease 36 Large protruding forehead 4 Increased whorl patterns 36 Clinodactyly 4 Dysplastic labia minora 35 Dysplastic teeth [labmed.hallym.ac.kr]

Cleft lip 8 Abnormal male genitalia 57 Umbilical hernia 7 Microcephaly 56 Nodules at corner of mouth 6 Carp mouth 56 Coloboma 4 Foot deformity 51 Eczema 4 Atretic/stenotic ear [labmed.hallym.ac.kr]

Acrocallosal Syndrome

ears. [dailyrounds.org]

[…] and low-set ears, severe hypertelorism and profound psychomotor delay. [ncbi.nlm.nih.gov]

[…] with a prominent forehead, widely spaced eyes (ocular hypertelorism), downslanting eyelid folds (palpebral fissures), a small nose with a broad nasal bridge; and malformed (dysplastic [dailyrounds.org]

Renpenning Syndrome

ears and rough slightly sparse hair. [hal.archives-ouvertes.fr]

The specific facial dysmorphic features included at least four of the following signs: long triangular face, large ridged nose, half‐depilated eyebrows, dysplastic or protruding [deepdyve.com]

[…] protruding ears, sparse eyebrows and hair. [invitae.com]

Chromosome 22q13.3 Deletion Syndrome

Facial and physical characteristics include low muscle tone, large hands, misformed ears, dysplastic toenails, long eyelashes, a large head, flat midface, wide brow, wide [fdna.health]

Congenital Aural Atresia

[…] helices HP:0008589 - 6.1.5 Cystic ear pinna - - - 6.1.6 Dysplastic ears Dysplastic ears HP:0000398 - 6.1.7 Large ears Large ears HP:0000400 - 6.1.8 Low-set ears Low-set ears [compbio.charite.de]

Three images of the ear of a fetus with Townes syndrome 6. Dysplastic ear Definition : Abnormally shaped auricles. [sonoworld.com]

[…] external ears; oesophageal atresia type C; delayed gyration and retro thyoid thymic residues - - - - Dennis E. [databases.lovd.nl]

22q11.2 Duplication Syndrome

ears Malformed ears Simple ears [ more ] 0000377 Autosomal dominant inheritance 0000006 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 High [rarediseases.info.nih.gov]

[…] these symptoms is not available through HPO Abnormality of cardiovascular system morphology 0030680 Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed [rarediseases.info.nih.gov]

Hunermann-Conradi Syndrome

ears. [rarediseases.org]

[…] unusually prominent forehead (frontal bossing), flattened cheekbones (malar hypoplasia), a flattened bridge of the nose, upturned nostrils (anteverted nares) and malformed (dysplastic [rarediseases.org]

Ring Chromosome 18

He had growth and developmental delay, mental and motor retardation, microcephaly, microphtalmia, triangle face, small dysplastic ears, strabismus, epicanthal folds on the [ncbi.nlm.nih.gov]

Facial features of ring 18 include low-set, dysplastic ears, epicanthic folds, and hypertelorism. Micrognathia has also been reported. [en.wikipedia.org]

Ring Chromosome 1

Facial features of ring 18 include low-set, dysplastic ears, epicanthic folds, and hypertelorism. Micrognathia has also been reported. [en.wikipedia.org]

Partial Trisomy 4p Syndrome

ears, prognathism and various hand and foot malformations. [ncbi.nlm.nih.gov]

ears, prognathism and various hand and foot malformations.Chromosomal studies… CONTINUE READING Figures and Topics from this paper. [semanticscholar.org]

[…] child with the characteristic findings of frontal bossing, deep-set eyes, broad nasal bridge giving the appearance of hypertelorism, wide nares, midfacial hypoplasia, large dysplastic [ncbi.nlm.nih.gov]

Congenital Malformation of the Inner Ear

Her ears were low set and anterverted. Dysplastic ear changes were asymmetrical and more pronounced in the upper half. [cags.org.ae]

The middle ear and mastoid volumes were decreased in most of the ears. The stapes was aplastic in 1 ear and was dysplastic in 5 ears. [ajnr.org]

In addition, they had ear abnormalities with asymmetrical involvement and more prominent dysplastic changes in the upper half of the ear and helix. [cags.org.ae]

Autosomal Recessive Cutis Laxa Type 1B

ears, sparse hair, small mouth with thin lips, and small upturned nose. [e-ijd.org]

Affected infants may have distinctive facial features including eyes that are farther apart than normal (ocular hypertelorism), low-set, malformed (dysplastic) ears, highly [rarediseases.org]

[…] inheritance and affection of other siblings in the same family has been noted. [4], [6] They have dysmorphic features such as the progeroid look, prominent forehead; large low set dysplastic [e-ijd.org]

3M Syndrome

ears), microcephaly, mental deficiency, and infantile eczema as well as prenatal and postnatal growth deficiency. [ncbi.nlm.nih.gov]

ears), microcephaly, mental deficiency, and infantile eczema, as well as prenatal and postnatal growth deficiency. [doi.org]

[…] characteristic facial appearance (small face with sloping forehead, broad nasal bridge, shallow supraorbital ridge, broad nasal tip, short palpebral fissures, telecanthus, ptosis and dysplastic [ncbi.nlm.nih.gov]

Baraitser-Winter Syndrome

ears, pre-auricular pit, downslanting palpebral fissures ACTB ACTB 1 1 Bernt Popp 00204316 patient PubMed: Johnston 2013 - F - United States - - 0 - - BRWS1 see paper; .. [databases.lovd.nl]

Facial features are striking: arched eyebrows; proptosis, hypertelorism; downslanting palpebral fissures; broad nasal bridge; macrostomia and dysplastic, low-set ears. [ncbi.nlm.nih.gov]

00111411 S_087 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - 0 - - BRWS1 Severe ID, congenital heart defect, cleft lip and palate, epilepsy, behavioural anomalies, dysplastic [databases.lovd.nl]

Autosomal Recessive Amelia

Keywords: Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears African Health Sciences Vol. 5 (3) 2005: pp. 270-275 PDF A. [ajol.info]

Keywords : Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears [africanhealthsciences.org]

A A Kaissi F B Chehida N Nassib H Safi M Djnziri M B Ghachem H Gharbi Keywords: Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears Abstract We report [ajol.info]

Neu-Laxova Syndrome Type 2

Affected newborns may also have large, low-set, malformed (dysplastic) ears; a round, gaping mouth with thick lips; a short neck; and widely set, unusually prominent eyes. [rarediseases.org]

The facial malformations include micrognathia, low-set or dysplastic ears, cleft lip and palate, upslanting palpebral fissures, short nose with broad tip, long philtrum, and [radiologykey.com]

ear, cleft lip/palate, thick lips, and micrognathia), microcephaly, cerebellum hypoplasia, corpus callosum agenesis, decreased gyri, dilatation or abnormal ventricle, dandy [ijpmonline.org]

Infantile Restrictive Dermopathy

Additional dysmorphic findings included enlarged fontanelle, hypertelorism, absent eyelashes, small pinched nose, microstomia, micrognathia, dysplastic ears, pterygium colli [thedoctorsdoctor.com]

There were no major dysmorphic features; however, the ears were low-set and dysplastic. The infant had hepatosplenomegaly and was hypotonic. [jci.org]

dyplastic fingers and toes with upper- and partial lower-limb flexion contractures, dysplastic genitalia, and muscular hypotonia. [thedoctorsdoctor.com]

Kleefstra Syndrome 1

ear helices + + − + − − − − − − − Preauricular tag − − − − − − + − − − − Duplicated right Thumb and left − − − − − − + − − − − Hearing loss (sensorineural) − − − − − − + [mdpi.com]

[…] and everted lower lip + − − − + − − − − − − Thin upper lip, down-turned mouth, and misaligned teeth − − − − − − − − − + − High palate + Pointed chin + − − − − − − − − − − Dysplastic [mdpi.com]

Oculodentodigital Dysplasia

Some patients have dysplastic ears and conductive hearing loss. Mild psychomotor delay has been described. [orpha.net]

14q11-q22 Microdeletion Syndrome

dysplastic ears, microstomia), umbilical hernia, horseshoe kidneys, tonic / clonic seizures, metatarsus valgus, attention deficit, speech delay. [cordis.europa.eu]

ears, triangular eyebrows, epichantal folds, deep-set eyes, short palpebral fssures widely-spaced eyes, optic atrophy that can lead to cortical blindness, small mouth and [nipt.ng]

[…] examination showed: weight 13 kg, height 98 cm, head circumference 49 cm, neonatal jaundice, dysmorphisms (narrow forehead, epicanthic folds, up-slnated palpebral fissures, large ears [cordis.europa.eu]

Short Rib-Polydactyly Syndrome Type Beemer-Langer

Showing of 57 | Percent of people who have these symptoms is not available through HPO Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed ears [rarediseases.info.nih.gov]

Chromosome 16q Duplication

Dysmorphic features associated with proximal dup16q include round face, flattened nasal bridge, dysplastic and low set ears, long philtrum, thin upper lip, relative micro/ [ncbi.nlm.nih.gov]

Characteristics such as high forehead, round face, dysplastic and low-set ears, palpebral fissures slant down, flat nasal bridge, bulbous nose, long flat philtrum, thin upper [ncbi.nlm.nih.gov]

ears, flat nasal bridge, long flat philtrum, thin upper lip, small mouth, and short neck. [ncbi.nlm.nih.gov]

Trisomy 8

ears, deep palmar and plantar furrows, scoliosis, and only mild retardation. [thieme-connect.de]

March 2008 (online) Abstract A five year old boy is reported with typical signs of Trisomy 8-Syndrome: long, narrow face, broad based nose, eversion of lower lip, microgeny, dysplastic [thieme-connect.de]

Partial Trisomy 17p

ears Low set ears Widely spaced eyes Closely spaced eyes Narrow space between eyelids Down slanting space between eyelids Drooping upper eyelid Small eyes Small pupils Broad [checkorphan.org]

[…] list of signs and symptoms mentioned in various sources for Trisomy 17p includes the 44 symptoms listed below: Small head Underdeveloped midface Small jaw Frontal bossing Dysplastic [checkorphan.org]