Hearing impairment, and Microdontia

Diseases related with Hearing impairment and Microdontia

In the following list you will find some of the most common rare diseases related to Hearing impairment and Microdontia that can help you solving undiagnosed cases.

Top matches:

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

USHER SYNDROME TYPE 2 Is also known as ush2

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 2

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA

Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Other less relevant matches:

Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

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

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome|anterior chamber cleavage syndrome|rieger syndrome, type 3|rieger syndrome|axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AXENFELD-RIEGER SYNDROME

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Top 5 symptoms//phenotypes associated to Hearing impairment and Microdontia

Symptoms // Phenotype % cases
Wide nasal bridge Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Microdontia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypodontia Hypospadias Micrognathia Short stature Cleft palate Strabismus Downslanted palpebral fissures Depressed nasal bridge Conductive hearing impairment Clinodactyly Generalized hypotonia Posteriorly rotated ears Abnormal cardiac septum morphology Growth delay Abnormal facial shape Microtia Abnormality of the pinna Hypoplasia of the maxilla Underdeveloped nasal alae Telecanthus Hernia

Rare Symptoms - Less than 30% cases

Wide mouth Hypoplasia of the iris Redundant skin Hydrocephalus Hypoplasia of the corpus callosum Recurrent otitis media Microcornea Thin upper lip vermilion Seizures Prominent forehead Atrial septal defect Motor delay Rieger anomaly Midface retrusion Abnormal heart morphology Optic atrophy Syndactyly Bulbous nose Mandibular prognathia Delayed eruption of teeth Congenital diaphragmatic hernia Narrow mouth Anal stenosis Abnormality of the skeletal system Ectodermal dysplasia Sparse and thin eyebrow Aniridia Bilateral sensorineural hearing impairment Posterior embryotoxon Short neck Glaucoma Cleft lip Low-set ears Failure to thrive Pulmonary hypoplasia Everted lower lip vermilion Abnormality of the dentition Brachydactyly Blindness Skin tags Conical tooth Widely spaced teeth Abnormality of dental enamel Synophrys Visual loss Carious teeth Delayed speech and language development Mild hearing impairment Megalocornea Scoliosis Muscle weakness Dandy-Walker malformation Kyphosis Inguinal hernia Umbilical hernia Anterior synechiae of the anterior chamber Short philtrum Anal atresia Abnormality of dental morphology Prominent supraorbital ridges Confusion Growth hormone deficiency Intestinal malrotation Broad neck Choanal atresia Hypoplasia of dental enamel Iris coloboma Reduced number of teeth Myotonia Slurred speech Ureterocele Wide intermamillary distance Overfolded helix Lissencephaly Cryptorchidism Severe hydrocephalus Macular hypoplasia Epicanthus Colpocephaly Microphthalmia Pectus excavatum Upslanted palpebral fissure Abnormal cortical gyration Communicating hydrocephalus Cortical gyral simplification Relative macrocephaly Osteopenia Scrotal hypoplasia Microretrognathia Pes planus Low-set, posteriorly rotated ears Wide anterior fontanel Blepharophimosis Heterotopia Flat face Short palm Tapered finger Cholestasis Polycoria Short palpebral fissure Abnormality of the abdominal wall Joint hypermobility Bilateral choanal atresia Narrow nose Submucous cleft soft palate Pili canaliculi Absent lacrimal punctum Coarse hair Abnormality of the voice Supernumerary nipple Non-midline cleft lip Ectrodactyly Hyperconvex fingernails Submucous cleft hard palate Generalized hyperpigmentation Hypoplastic labia majora Progressive alopecia Dystrophic toenail Pili torti Trichodysplasia Dystrophic fingernails Velopharyngeal insufficiency Thick nail Hyperconvex nail Dry hair Ankyloblepharon Hypohidrotic ectodermal dysplasia Cystic renal dysplasia Anhidrotic ectodermal dysplasia Small, conical teeth Sparse eyelashes Hepatic failure Frontal bossing Axenfeld anomaly Abnormally prominent line of Schwalbe Ptosis Facial asymmetry Ventricular septal defect Clinodactyly of the 5th finger Coloboma Alopecia Polyhydramnios Cerebellar hypoplasia High forehead Ventriculomegaly Protruding ear Hypohidrosis Sparse hair Finger syndactyly Hypotrichosis Cleft upper lip Macrocephaly Palmoplantar keratoderma Bifid uvula Small nail Fine hair Thin skin Renal dysplasia Decreased number of sweat glands Microcephaly Sparse or absent eyelashes Retinal vein occlusion Thick eyebrow Profound sensorineural hearing impairment Microtia, first degree Cochlear aplasia Aplasia of the inner ear Absent stapes Feeding difficulties Constipation Coarse facial features Feeding difficulties in infancy Craniosynostosis Neurological speech impairment Hypermetropia Wide nose Abnormal cranial nerve morphology Otitis media Sparse scalp hair Arnold-Chiari malformation Trigonocephaly Broad philtrum Sagittal craniosynostosis Small pituitary gland Highly arched eyebrow Short metacarpal Blue sclerae Short metatarsal Deep philtrum Anteverted ears Arachnoid cyst Radioulnar synostosis Vestibular dysfunction Nystagmus Cataract Myopia Depressivity Rod-cone dystrophy Cerebral cortical atrophy Anxiety Nyctalopia Hallucinations Schizophrenia Abnormal electroretinogram Aplasia/Hypoplasia of the cerebellum Scotoma Increased number of teeth Iris hypopigmentation Hemianopia Subcortical cerebral atrophy Abnormality of dental color Abnormality of the inner ear Long face Prominent nose Tall stature Pointed chin Abnormality of the outer ear Delayed gross motor development Congenital sensorineural hearing impairment High hypermetropia Abnormality of the hand Tarsal synostosis Hypoplastic iris stroma Ablepharon Hypoplastic nipples Shawl scrotum Inverted nipples Taurodontia Absent nipple Gingival fibromatosis Ataxia Breast aplasia Broad alveolar ridges Generalized hypertrichosis Abnormality of female external genitalia Frontal hirsutism Abnormality of male external genitalia Long nose Malar flattening Abnormality of cardiovascular system morphology Patent ductus arteriosus Proptosis Cerebellar vermis hypoplasia Ectopia pupillae Concave nasal ridge Peters anomaly Anterior segment developmental abnormality Abnormality of the hypothalamus-pituitary axis Abnormal anterior chamber morphology Aplasia/Hypoplasia of the iris Ureteral stenosis Aplasia/Hypoplasia of the skin Aplasia/Hypoplasia of the eyebrow Abnormality of digit Triangular face Carpal synostosis Short hallux Diastema Hitchhiker thumb Talon cusp Talipes equinovarus Anteverted nares Rigidity Dry skin Thin vermilion border Hirsutism High, narrow palate Dental malocclusion Cupped ear Abnormality of the skin Hypertrichosis Depressed nasal ridge Abnormality of the genital system Abnormality of the face Low anterior hairline Generalized hirsutism Cutis laxa Hyperextensible skin Dermal atrophy Atresia of the external auditory canal Sparse eyebrow Ectropion Periventricular gray matter heterotopia


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