Low-Set Posteriorly Rotated Ears: Causes & Reasons

Possible Causes for Low-Set Posteriorly Rotated Ears

multiple lentigines and low-set posteriorly rotated ears (Figure 1). [nature.com]

Definition A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly [uniprot.org]

The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. [flybase.org]

Cerebro-Facio-Thoracic Dysplasia

posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies. [unboundmedicine.com]

Low-set, posteriorly rotated ears 0000368 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Microdontia of primary teeth Decreased [rarediseases.info.nih.gov]

posteriorly rotated ears, short neck,... more Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics [scinapse.io]

Baller-Gerold Syndrome

Low set posteriorly rotated ears (64%). Micrognathia (50%). Microstomia (32%). Limbs. Radial aplasia/hypoplasia (77%). Ulna, short and curved (68%). [fetalultrasound.com]

A peculiar facial appearance with micrognathia, downward slanting palpebral fissures, and malformed, low-set, and posteriorly rotated ears is recognized. [link.springer.com]

posteriorly rotated ears 0000368 Midface capillary hemangioma 0007452 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Optic atrophy 0000648 [rarediseases.info.nih.gov]

Legius Syndrome

rotated ears, short neck with excess skin folds, low posterior hairline, coarseness of features (particularly CFC and Costello syndromes); cardiac anomalies, particularly [genomicseducation.hee.nhs.uk]

Noonan syndrome : short size (40%-50%), facial dysmorphism (hypertelorism, antimongoloid palpebral fissures, ptosis, low-set and posteriorly rotated ears, etc.), short neck [admerahealth.com]

Noonan like features include congenital heart problems, hyperextensibility, low muscle tone, low set and posteriorly rotated ears, deeply grooved philtrum, wide spaced eyes [inspire.com]

Acrorenal Mandibular Syndrome

Synopsis craniofacial anomalies mandibular hypoplasia (very hypoplastic mandible) narrow head downslanting palpebral fissures slight webbing of the neck low-set posteriorly [humpath.com]

Symptoms via clinical synopsis from OMIM: 58 Head And Neck Ears: low-set ears posteriorly rotated ears Chest External Features: narrow chest Skeletal Pelvis: hip dislocation [malacards.org]

rotated ears long flat philtrum, choanal stenosis renal anomalies dysplastic polycystic kidneys bilateral renal agenesis duplex renal collecting system bilateral renal hypoplasia [humpath.com]

Autosomal-Recessive Robinow Syndrome

posteriorly rotated ears Chronic otitis media ... ... [familydiagnosis.com]

set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Pectus excavatum [csbg.cnb.csic.es]

posteriorly rotated) ears. [rarediseases.org]

Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

Characteristic facies include hypertelorism (74%), downward sloping palpebral apertures (38%), epicanthal folds (39%), ptosis (48%), and low-set posteriorly rotated ears. [egl-eurofins.com]

The facial features in neonates consists of a broad and high forehead, hypertelorism, epicanthal folds, low-set posteriorly rotated ears, micrognathia, short neck and low [raredisorders.imedpub.com]

set and posteriorly rotated ears, short and webbed neck, redundant skin, hypernasal voices and pectus abnormalities. [rasopathiesnet.org]

Congenital Aural Atresia

[…] malformation Conductive hearing impairment Exostosis of the external auditory canal Low-set ears Low-set, posteriorly rotated ears Growth abnormality Short stature Neoplasm [familydiagnosis.com]

[…] 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 HP:0000369 - 6.1.9 Posteriorly rotated [compbio.charite.de]

posteriorly rotated ears Microcephaly Pointed chin Popliteal pterygium Ptosis Respiratory insufficiency Short stature Telecanthus Umbilical hernia Vertebral segmentation [familydiagnosis.com]

Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

posteriorly rotated ears; broad neck with low hairline; and thorax deformity), and abnormal skin and adnexa. [clincancerres.aacrjournals.org]

The main distinctive facial features are: -hypertelorism -ptosis -epicanthal folds -downslanted palpebral fissures -broad, high forehead -Low-set, posteriorly rotated ears [flipper.diff.org]

ears ; Lymphedema ; Macrotia ; Mitral regurgitation ; Pectus excavatum ; Phenotypic variability ; Polyhydramnios ; Posteriorly rotated ears ; Ptosis ; Short neck ; Short [mousephenotype.org]

Branchio-Oculo-Facial Syndrome

posteriorly rotated ears Abnormality of the pinna Conductive hearing impairment Wide nasal bridge Broad nasal tip Microcornea Strabismus ... ... [familydiagnosis.com]

We present an 18-day old boy with bilateral cervical cutaneous defect in the retroauricular region, low-set and posteriorly rotated ears, bilateral microphtalmia and bilateral [miami.pure.elsevier.com]

2 Clinical Features of Branchio-oculo-facial syndrome : Multicystic kidney dysplasia Renal agenesis Hydronephrosis High palate Everted lower lip vermilion Dolichocephaly Low-set [familydiagnosis.com]

Cerebellotrigeminal Dermal Dysplasia

He had brachyturricephaly, midface retrusion, low-set posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia. [ncbi.nlm.nih.gov]

He had brachyturricephaly, midface retrusion, low‐set posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia. [doi.org]

posteriorly rotated ears) [medifind.com]

Congenital Malformation Syndromes Involving Early Overgrowth

posteriorly rotated ears Mixed hearing impairment Wide nasal bridge Strabismus Downslanted palpebral fissures ... ... [familydiagnosis.com]

posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368 10 arachnodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001166 11 disproportionate [malacards.org]

posteriorly rotated ears Oligodactyly Abnormality of the pinna Cleft lip Paroxysmal bursts of laughter Highly arched eyebrow Hypodontia Sleep-wake cycle disturbance Split [mendelian.co]

Crane-Heise Syndrome

[…] and posteriorly rotated ears, vertebral anomalies and absent clavicles. [ncbi.nlm.nih.gov]

[…] presenting intrauterine growth retardation, a poorly mineralised calvarium, characteristic facial features comprising cleft lip and palate, hypertelorism, anteverted nares, low-set [ncbi.nlm.nih.gov]

Familial Visceral Myopathy

posteriorly rotated ears Prominent nasal bridge Anteverted nares Narrow chest Hyperparathyroidism Arachnodactyly Joint stiffness Umbilical hernia Anonychia Aganglionic megacolon [familydiagnosis.com]

set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Microtia / cryptomicrotia / anotia / external auditory [csbg.cnb.csic.es]

[…] include: 2 Clinical Features of Familial visceral myopathy : Megacystis Hydroureter Vesicoureteral reflux Cleft palate Microcephaly Round face Broad forehead Micrognathia Low-set [familydiagnosis.com]

Pelviscapular Dysplasia

Clinical description The facial dysmorphism is characterized by frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated [orpha.net]

[…] globes, strabismus, low-set posteriorly rotated and malformed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, low hairline, and mild [medical-dictionary.thefreedictionary.com]

[…] and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. [orpha.net]

Monosomy 1p36 Syndrome

posteriorly rotated ears 0000368 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [rarediseases.info.nih.gov]

rotated, low-set, abnormal ears. [medicalandresearch.com]

long philtrum, pointed chin, large, late-closing anterior fontanel (77%), microbrachycephaly (65%), epicanthal folds (50%), and posteriorly rotated, low-set, abnormal ears [ncbi.nlm.nih.gov]

Jacobsen Syndrome

microtia low set posteriorly rotated ears: low set ears abnormal platelet function: thrombocytopenia or pancytopenia are usually present at birth It results from a deletion [radiopaedia.org]

low set posteriorly rotated ears). [ncbi.nlm.nih.gov]

[…] dysmorphism skull deformities: trigonocephaly 5 hypertelorism ptosis coloboma downslanting palpebral fissures epicanthal folds broad nasal bridge short nose v-shaped mouth small ears [radiopaedia.org]

Disorder of Sex Development - Intellectual Disability Syndrome

[…] eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490 14 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368 15 downturned corners [malacards.org]

[…] posterior hairline Low hairline at back of neck 0002162 Low-set, posteriorly rotated ears 0000368 Microtia Small ears Underdeveloped ears [ more ] 0008551 Reduced bone mineral [rarediseases.info.nih.gov]

80%) HP:0002162 11 hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000135 12 short philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000322 13 deeply set [malacards.org]

Multiple Congenital Anomalies

posteriorly rotated ears with overfolded thick helices. [ncbi.nlm.nih.gov]

[…] fissures, bulbous nose, wide nasal bridge, high arched palate, low-set and posteriorly rotated ears, micrognathia, short neck, ptosis, patient ductus arteriosus, hypoplastic [ncbi.nlm.nih.gov]

[…] forehead, hypertelorism, bilateral epicanthic folds, upslanting palpebral fissures, microphthalmia, convergent strabismus, wide nasal bridge, aberrant teeth, dental caries, and low-set [ncbi.nlm.nih.gov]

Dubowitz Syndrome

[…] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low-set, posteriorly rotated ears 0000368 Micrognathia Little lower jaw Small jaw Small lower [rarediseases.info.nih.gov]

[…] hair Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ] 0002213 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypospadias 0000047 Low [rarediseases.info.nih.gov]

Sanjad-Sakati Syndrome

ears, posteriorly rotated ears, deep-set eyes, microcephaly, microdontia, micrognathia, prominent forehead, retrognathia and thin lips. [semanticscholar.org]

Review Medicine Children 2022 The reported orofacial manifestations of Sanjad–Sakati syndrome include beaked nose, depressed nasal bridge, enamel hypoplasia, hypodontia, low-set [semanticscholar.org]

set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Seizures / epilepsy / absences / spasms / status epilepticus [csbg.cnb.csic.es]

Progressive Retinal Dystrophy due to Retinol Transport Defect

The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. [mendelian.co]

posteriorly rotated ears Schwannoma Vasculitis Acrocyanosis Amyloidosis Episodic fever Intestinal obstruction Hypermelanotic macule Elevated erythrocyte sedimentation rate [mendelian.co]

[…] vision Pterygium Failure to thrive in infancy Abnormality of the coagulation cascade Myelodysplasia Radial deviation of finger Arnold-Chiari malformation Poor suck Coloboma Low-set [mendelian.co]

Autosomal Recessive Primary Microcephaly Type 10

Some phenotypes (characteristics) of people who have Russell–Silver syndrome are inadequate catch-up growth in first 2 years, body asymmetry, lack of appetite, low-set posteriorly [en.wikipedia.org]

rotated ears, clinodactly (inward curving) of the 5th finger, webbed toes, non-descended testicles, weak muscle tone, delayed bone age, downturned corners of mouth and thin [en.wikipedia.org]

Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

All children who participated in the survey had an abnormal palate and low-set posteriorly rotated ears. [bohring-opitz.org]

ears, dolichocephaly, narrow skull, thickened/oedematous eyelids, wide downslanting palpebral fissures, hypertelorism, low-set posteriorly rotated external ears with a flattened [chr7.org]

Lytic Bone Lesion

[…] nasal bridge with a wide nose, a small mouth, low-set posteriorly rotated ears and prominent maxillae. [nature.com]

[…] hair line-front - Low set ears / posteriorly rotated ears - Mitral valve atresia / stenosis / narrowing - Myopia - Patella dislocation - Patent ductus arteriosus - Pectus [csbg.cnb.csic.es]

[…] and posteriorly rotated ears, and loss of teeth), coarse thick hair, acroosteolysis of all distal and some middle phalanges of the hand (Fig. 11), wormian skull bones (Fig [jocr.co.in]

Schwartz-Jampel Syndrome

posteriorly rotated ears 0000368 Metatarsus valgus 0010508 Micromelia Smaller or shorter than typical limbs 0002983 Myotonia 0002486 Narrow mouth Small mouth 0000160 Pes [rarediseases.info.nih.gov]

[…] disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Low-set [rarediseases.info.nih.gov]

Young-Simpson Syndrome

Abstract We present a female infant with (1) abnormal facies: microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, micrognathia [doi.org]

[…] malformation Low-set ears Posteriorly rotated ears IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide [ncbi.nlm.nih.gov]

Other features that can be common in both GPS and SBBYSS include low-set and posteriorly rotated ears, prominent cheeks, downslanting palpebral fissures, flat broad nasal [ncbi.nlm.nih.gov]

Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome

posteriorly rotated ears Feeding difficulties in infancy Glaucoma Brachycephaly Posteriorly rotated ears Polyhydramnios Cerebellar hypoplasia Epicanthus Clinodactyly of [mendelian.co]

set, posteriorly rotated ears) (B) short stature with shortened long bones but no evidence of dysplasia or craniosynostosis. [link.springer.com]

[…] disease Nodular goiter Multinodular goiter Long neck Thyroid nodule Gastrointestinal stroma tumor Muscular hypotonia Bilateral cryptorchidism Agenesis of corpus callosum Low-set [mendelian.co]

Ring Chromosome 19

set ears * Posteriorly rotated ears * Widely spaced eyes * High nasal bridge * Prominent philtrum * Redundant neck skin * Clubfoot * Syndactyly * Joint contractures * Cutis [checkorphan.org]

set ears * Mental retardation * Motor retardation * Posteriorly rotated ears * Redundant neck skin * Small head * Syndactyly * Widely spaced eyes Prevention - Chromosome [checkorphan.org]

[…] syndrome The list of signs and symptoms mentioned in various sources for Chromosome 19 ring syndrome includes the 20 symptoms listed below: * Small head * High forehead * Low [checkorphan.org]

Arthrogryposis Syndrome

[…] and posteriorly rotated ears; short neck; and large wrinkled hands. [pediatricneuro.com]

posteriorly rotated ears 0000368 Lymphedema Swelling caused by excess lymph fluid under skin 0001004 Polyhydramnios High levels of amniotic fluid 0001561 Scoliosis Abnormal [rarediseases.info.nih.gov]

The characteristic features of oligohydramnios sequence are wrinkled skin; skin folds that extend from the inner canthus to the upper cheek; squashed nose; large, low-set [pediatricneuro.com]