Hearing impairment, and High myopia

Diseases related with Hearing impairment and High myopia

In the following list you will find some of the most common rare diseases related to Hearing impairment and High myopia 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

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE V; STL5

High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME

Other less relevant matches:

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Myopia
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Myopia
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE IV; STL4

Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Myopia
  • Macrocephaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about FIBROCHONDROGENESIS 2; FBCG2

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Medium match HYPERTRYPTOPHANEMIA

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Retinal detachment Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Midface retrusion Vitreoretinopathy Intellectual disability Short stature

Rare Symptoms - Less than 30% cases

Metaphyseal widening Proptosis Platyspondyly Pectus excavatum Malar flattening Global developmental delay Anteverted nares Arthralgia Epiphyseal dysplasia Camptodactyly of finger Interphalangeal joint contracture of finger Pectus carinatum Joint laxity Glossoptosis Scoliosis Cataract Bilateral sensorineural hearing impairment Tryptophanuria Rhizomelia Joint contracture of the hand Ectopia lentis Dumbbell-shaped long bone Camptodactyly of toe Upper airway obstruction Short femur Osteochondroma Hypoplastic scapulae Femoral bowing Premature birth Increased vertebral height Arachnodactyly Micromelia Narrow chest Frontal bossing Abnormality of lower limb joint Brachydactyly Enlarged epiphyses Premature osteoarthritis Cleft soft palate Tall stature Craniosynostosis Hypertelorism Pierre-Robin sequence Stuttering Mood swings Head-banging Generalized joint laxity Microcephaly Overweight Limited elbow extension Emotional lability Adducted thumb High palate Hypersexuality Intellectual disability, moderate Aggressive behavior Pes planus Depressivity Camptodactyly Behavioral abnormality Fever Visual impairment Flexion contracture Strabismus Skin rash Hypoplastic ilia Exostoses Profound hearing impairment Progressive hearing impairment Joint dislocation Iris coloboma Talipes Coloboma Kyphoscoliosis Glaucoma Kyphosis Talipes equinovarus Albuminuria Hematuria Bilateral talipes equinovarus Vertigo Proteinuria Conductive hearing impairment Rod-cone dystrophy Peripheral neuropathy Cognitive impairment Nystagmus Abnormal vitreous humor morphology Corneal opacity Retinopathy Chorioretinal coloboma Multiple joint dislocation Arthropathy Short ribs Abnormal joint morphology Osteoarthritis Abnormality of the eye Cupped ribs Hypoplastic pubic bone Hypoplastic ischia Metaphyseal cupping Bell-shaped thorax Protuberant abdomen Thoracic hypoplasia Wide anterior fontanel Cervical kyphosis Skeletal dysplasia Short nose Macrocephaly Degenerative vitreoretinopathy Irregular capital femoral epiphysis Rhegmatogenous retinal detachment Flat capital femoral epiphysis Severe sensorineural hearing impairment Flat face Astigmatism Genu valgum Broad femoral metaphyses


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