Low-set ears, and Dental malocclusion

Diseases related with Low-set ears and Dental malocclusion

In the following list you will find some of the most common rare diseases related to Low-set ears and Dental malocclusion that can help you solving undiagnosed cases.

Top matches:

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

OTOFACIOCERVICAL SYNDROME 2; OTFCS2 Is also known as ofc2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Low-set ears
  • Downslanted palpebral fissures
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME 2; OTFCS2

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Other less relevant matches:

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Top 5 symptoms//phenotypes associated to Low-set ears and Dental malocclusion

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Dental malocclusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cupped ear Short stature Downslanted palpebral fissures Cleft palate Ptosis Cataract Sparse eyebrow Generalized hypotonia Abnormal facial shape Cryptorchidism Telecanthus Dental crowding Low-set, posteriorly rotated ears Feeding difficulties Wide nasal bridge Respiratory distress Short neck Epicanthus Macrocephaly Posteriorly rotated ears Narrow mouth Sparse and thin eyebrow Apnea

Rare Symptoms - Less than 30% cases

Underdeveloped nasal alae Hypoplastic superior helix Hernia Failure to thrive Micropenis Abnormality of the pinna Poor suck Sensorineural hearing impairment Cleft at the superior portion of the pinna Mandibular condyle aplasia Hypoplasia of teeth Question mark ear Mandibular condyle hypoplasia Tapered finger Hypospadias Thick lower lip vermilion Intellectual disability, moderate Hirsutism Full cheeks Round face Speech articulation difficulties Preauricular skin tag Wide intermamillary distance Ankylosis Glossoptosis Long nose Snoring Clinodactyly Microphthalmia Lacrimal duct stenosis Triangular face Delayed eruption of teeth Fine hair Scoliosis Microcephaly Thin vermilion border Myopia Taurodontia Wide mouth Macrodontia of permanent maxillary central incisor Neonatal hypotonia Overfolding of the superior helices Syndactyly Preauricular pit Abnormality of the dentition High palate Mandibular prognathia Atresia of the external auditory canal Hypoplasia of the maxilla Hypoplastic nipples Telangiectasia of the skin Frontal bossing Congenital sensorineural hearing impairment Abnormal dermatoglyphics Bifid scrotum Delayed speech and language development Telangiectasia Chordee Renal dysplasia Aplasia/Hypoplasia of the nipples Hypoplasia of penis Renal hypoplasia Malar flattening Abnormality of male external genitalia Frontal hirsutism Intellectual disability, severe Mild hearing impairment Abnormality of female external genitalia Generalized hypertrichosis Broad alveolar ridges Breast aplasia Renal insufficiency Sparse or absent eyelashes Hypothyroidism Pancytopenia Umbilical hernia Gingival fibromatosis Proteinuria Blepharophimosis Stage 5 chronic kidney disease Everted lower lip vermilion Ablepharon Absent nipple Skin tags Inverted nipples Shawl scrotum Long philtrum Narrow nose Delayed skeletal maturation Scrotal hypoplasia Coloboma Corneal opacity Muscular dystrophy Synophrys Delayed puberty Iris coloboma Broad nasal tip Primary amenorrhea Choanal atresia Encephalocele Hypogonadotrophic hypogonadism Anosmia Hypogonadism Reduced number of teeth Limb-girdle muscular dystrophy Anophthalmia Agenesis of permanent teeth Hypoplastic labia majora Hyposmia Lacrimation abnormality Diastema Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Cleft lip Inguinal hernia Brachycephaly Hyperostosis Deeply set eye Toe syndactyly Small hand Short foot Microcornea Overgrowth Short palpebral fissure Sparse scalp hair Large fontanelles Abnormality of dental enamel Sparse eyelashes Abnormality of dental morphology Basal ganglia calcification Midface retrusion Spinal cord compression Mild global developmental delay Large earlobe Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Visual impairment Edema Aplasia/Hypoplasia of the skin Blue irides Aplasia/Hypoplasia of the eyebrow Prominent occiput Arthrogryposis multiplex congenita Long face Falls Generalized muscle weakness Decreased fetal movement Frequent falls Narrow palpebral fissure Easy fatigability Gowers sign Multiple joint contractures Weak cry Respiratory insufficiency Fatigable weakness Gastroesophageal reflux Bulbar palsy Upper airway obstruction Central apnea Long penis Temporomandibular joint ankylosis Protruding ear Facial asymmetry Bifid uvula Respiratory tract infection Flexion contracture Facial cleft Down-sloping shoulders Abnormality of the skeletal system Retrognathia Carious teeth Gliosis Blue sclerae Long eyelashes Microretrognathia Scapular winging Cutaneous syndactyly Mixed hearing impairment Alacrima Muscle weakness Mastoiditis Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar hypoplasia Sparse hair Poor speech Laryngomalacia Stridor Slender long bone Hypoplasia of the pons Laryngeal stridor Abnormality of the outer ear External ear malformation Ectropion Ectodermal dysplasia Pectus excavatum of inferior sternum Growth delay Talipes equinovarus Anteverted nares Rigidity Conductive hearing impairment Microtia Dry skin Bulbous nose High, narrow palate Abnormality of the skin Curly hair Microdontia Hypertrichosis Depressed nasal ridge Abnormality of the genital system Abnormality of the face Low anterior hairline Generalized hirsutism Cutis laxa Hyperextensible skin Dermal atrophy Redundant skin High anterior hairline Prolonged bleeding time Obstructive sleep apnea Vein of Galen aneurysmal malformation Microglossia Stenosis of the external auditory canal Impaired mastication Hamartoma of tongue Difficulty in tongue movements Anterior open-bite malocclusion Abnormality of the temporomandibular joint Hypoplasia of first ribs Periauricular skin pits Aplasia/Hypoplasia of the external ear Cleft helix Abnormality of coagulation Abnormality of the crus of the helix Postauricular skin tag Depressed nasal bridge Ventricular septal defect Atrial septal defect Polyhydramnios Hypertrophic cardiomyopathy Pulmonic stenosis Webbed neck Cubitus valgus Bilateral cryptorchidism Absent paranasal sinuses


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