Abnormality of the skeletal system, and Astigmatism

Diseases related with Abnormality of the skeletal system and Astigmatism

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Astigmatism that can help you solving undiagnosed cases.


Top matches:

Low match DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93


Autosomal recessive deafness-93 is characterized by moderate to severe prelingual deafness and a distinctive U-shaped audiogram (Tabatabaiefar et al., 2011).

Related symptoms:

  • Hearing impairment
  • Myopia
  • Astigmatism
  • Severe hearing impairment


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93

Low match MYOPIA 6; MYP6


Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).For a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}.

Related symptoms:

  • Myopia


SOURCES: MESH OMIM MENDELIAN

More info about MYOPIA 6; MYP6

Low match STICKLER SYNDROME TYPE 2


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

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Other less relevant matches:

Low match HELICOID PERIPAPILLARY CHORIORETINAL DEGENERATION


Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.

HELICOID PERIPAPILLARY CHORIORETINAL DEGENERATION Is also known as aa|scra|sveinsson chorioretinal atrophy|atrophia areata|helicoidal peripapillary chorioretinal degeneration|peripapillary chorioretinal degeneration, icelandic type|hpcd

Related symptoms:

  • Myopia
  • Abnormality of the eye
  • Astigmatism
  • Chorioretinal atrophy
  • Chorioretinal degeneration


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HELICOID PERIPAPILLARY CHORIORETINAL DEGENERATION

Low match MEGALOCORNEA


Related symptoms:

  • Cataract
  • Tremor
  • Glaucoma
  • Astigmatism
  • Megalocornea


SOURCES: OMIM MENDELIAN

More info about MEGALOCORNEA

Low match RING DERMOID OF CORNEA


Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.

RING DERMOID OF CORNEA Is also known as ring dermoid syndrome

Related symptoms:

  • Neoplasm
  • Cataract
  • Glaucoma
  • Amblyopia
  • Abnormal cornea morphology


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about RING DERMOID OF CORNEA

Low match RETINITIS PIGMENTOSA 75; RP75


Related symptoms:

  • Intellectual disability
  • Myopia
  • Blindness
  • Intellectual disability, mild
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 75; RP75

Low match EDICT SYNDROME


EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.

EDICT SYNDROME Is also known as endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome|familial keratoconus with cataract|keratoconus, familial, with early-onset anterior polar cataract|endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal

Related symptoms:

  • Cataract
  • Myopia
  • Reduced visual acuity
  • Corneal opacity
  • Congenital cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about EDICT SYNDROME

Low match RETINAL CONE DYSTROPHY 4; RCD4


Related symptoms:

  • Visual impairment
  • Blindness
  • Reduced visual acuity
  • Photophobia
  • Nyctalopia


SOURCES: MESH OMIM MENDELIAN

More info about RETINAL CONE DYSTROPHY 4; RCD4

Low match LEBER CONGENITAL AMAUROSIS 3; LCA3


Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997).Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement.For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (OMIM ); for retinitis pigmentosa, see {268000}.

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Visual loss
  • Rod-cone dystrophy
  • Reduced visual acuity


SOURCES: OMIM MESH MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS 3; LCA3

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Astigmatism

Symptoms // Phenotype % cases
Myopia Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Rod-cone dystrophy Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Astigmatism. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Glaucoma Constriction of peripheral visual field Retinopathy Corneal opacity Blindness Visual impairment Abnormal cornea morphology Anterior polar cataract Keratoconus Polar cataract Anterior segment developmental abnormality Ectopia pupillae Hypoplasia of the iris Ectropion Microcornea Aphakia Retinal pigment epithelial mottling Photophobia Cone/cone-rod dystrophy Myopic astigmatism Electronegative electroretinogram Nystagmus Visual loss Deeply set eye Retinal dystrophy Esotropia Exotropia Congenital blindness Retinal atrophy Retinal pigment epithelial atrophy Rotary nystagmus Congenital cataract Hearing impairment Mixed astigmatism Corneal arcus Severe hearing impairment Sensorineural hearing impairment Cleft palate Retinal detachment Abnormal vitreous humor morphology Abnormality of the eye Chorioretinal atrophy Chorioretinal degeneration Peripapillary chorioretinal atrophy Tremor Megalocornea Miosis Lens subluxation Peripheral visual field loss Iridodonesis Increased corneal thickness Mosaic corneal dystrophy Neoplasm Amblyopia Abnormal conjunctiva morphology Corneal astigmatism Abnormality of the corneal limbus Conjunctival dermolipoma Intellectual disability Intellectual disability, mild Pallor Peripheral retinal atrophy



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