Hearing impairment, and Hypermetropia

Diseases related with Hearing impairment and Hypermetropia

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

Top matches:

A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Leber congenital amaurosis with early-onset deafness is an autosomal dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss. Some patients show extinguished responses on electroretinography and moderate to severe hearing loss at birth (Luscan et al., 2017).

Related symptoms:

  • Hearing impairment
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Abnormality of the eye
  • Hypermetropia


SOURCES: OMIM MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS; LCAEOD

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Other less relevant matches:

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.

MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME Is also known as nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Cataract
  • Blindness
  • Microphthalmia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME

Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 3

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Visual impairment
  • Blindness


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 80; RP80

Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).

IMMUNODEFICIENCY 47; IMD47 Is also known as immunodeficiency and hepatopathy with or without neurologic features

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 47; IMD47

Ocular albinism with congenital sensorineural deafness is a rare, genetic, oculocutaneous disorder characterized by profound, congenital, sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and café-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus, and an iris transillumination defect.

OCULAR ALBINISM WITH CONGENITAL SENSORINEURAL DEAFNESS Is also known as waardenburg syndrome type 2 with ocular albinism|waardenburg syndrome, type 2, with ocular albinism, autosomal recessive|ws2-oa

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULAR ALBINISM WITH CONGENITAL SENSORINEURAL DEAFNESS

Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.

Related symptoms:

  • Sensorineural hearing impairment
  • Brachydactyly
  • Syndactyly
  • Finger syndactyly
  • Hypermetropia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYDACTYLY TYPE B2

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

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

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
High hypermetropia Uncommon - Between 30% and 50% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
Hypopigmentation of the skin Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Nyctalopia Cataract Intellectual disability

Rare Symptoms - Less than 30% cases

Nystagmus Vestibular hypofunction Progressive hearing impairment Visual impairment Progressive visual loss Photophobia Blindness Visual loss Global developmental delay Abnormality of the eye Retinal degeneration Congenital blindness Seizures Retinopathy Distal symphalangism of hands Aplasia/Hypoplasia of the middle phalanges of the hand Absent fingernail Cutaneous syndactyly of toes Short 1st metacarpal Carpal synostosis Synostosis of carpal bones Aplasia/Hypoplasia of the distal phalanges of the toes Freckling Cutaneous finger syndactyly Hypoplasia of the fovea Albinism Symphalangism affecting the phalanges of the hand Tarsal synostosis Ocular albinism Heterochromia iridis Proximal placement of thumb Cutaneous syndactyly Short toe Short foot Short distal phalanx of finger Finger syndactyly Proximal symphalangism Brachydactyly Giant melanosomes in melanocytes Optic nerve dysplasia Multiple lentigines Hypopigmentation of the fundus White forelock Syndactyly Micrognathia Aplasia/Hypoplasia of the nails Arachnoid cyst Pointed chin Widely spaced teeth Abnormality of the outer ear Delayed gross motor development Congenital sensorineural hearing impairment Increased number of teeth Skin tags Microdontia Abnormal cranial nerve morphology Conical tooth Anteverted ears Profound sensorineural hearing impairment Microtia, first degree Cochlear aplasia Aplasia of the inner ear Tall stature Underdeveloped nasal alae Aplasia/Hypoplasia of the distal phalanges of the hand Hypertelorism Proximal symphalangism of hands Distal symphalangism Type B brachydactyly Short distal phalanx of toe Aplasia/Hypoplasia of the middle phalanges of the toes Absent phalangeal crease Micronodular cirrhosis Prominent nose Wide nasal bridge Downslanted palpebral fissures Abnormality of the pinna Microtia Synophrys Long face Hypodontia Falls Jaundice Prolonged neonatal jaundice Microphthalmia Macular thickening Foveoschisis Optic disc drusen Scleral thickening Abnormal light- and dark-adapted electroretinogram Shallow anterior chamber Cystoid macular edema Retinal pigment epithelial atrophy Bone spicule pigmentation of the retina Drusen Cone/cone-rod dystrophy Abnormality of skin pigmentation Congenital cataract Glaucoma Hyperplasia of the maxilla Neoplasm Intellectual disability, severe Myopia Corneal opacity Retinal detachment Abnormal vitreous humor morphology Severe hearing impairment Delayed speech and language development Abnormality of the dentition Short attention span Poor speech Esotropia Psychosis Dental crowding Amblyopia Open bite Ataxia Depressivity Leukopenia Abnormality of the nervous system Splenomegaly Immunodeficiency Recurrent infections Cleft palate Hepatosplenomegaly Elevated hepatic transaminase Abnormality of the liver Cone-shaped epiphyses of the phalanges of the hand Cirrhosis Hepatic failure Hepatic steatosis Decreased antibody level in blood Decreased liver function Recurrent bacterial infections Hepatomegaly Macular atrophy Hyporeflexia Visual field defect Anxiety Astigmatism Hallucinations Schizophrenia Abnormal electroretinogram Vestibular dysfunction Scotoma Neurodevelopmental delay Peripheral visual field loss Iris hypopigmentation Hemianopia Abnormal cochlea morphology Renal insufficiency Retinal dystrophy Absent stapes


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Combined immunodeficiency, related diseases and genetic alterations Fever and Lymphadenopathy, related diseases and genetic alterations Hyperreflexia and Stomach cancer, related diseases and genetic alterations Myopathy and Abnormality of the liver, related diseases and genetic alterations Hearing impairment and Growth hormone deficiency, related diseases and genetic alterations