Abnormality of the skeletal system, and Iris coloboma

Diseases related with Abnormality of the skeletal system and Iris coloboma

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


Top matches:

Low match CATARACT-MICROCORNEA SYNDROME


Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.

Related symptoms:

  • Nystagmus
  • Cataract
  • Myopia
  • Corneal opacity
  • Iris coloboma


SOURCES: MESH ORPHANET MENDELIAN

More info about CATARACT-MICROCORNEA SYNDROME

Low match COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE


Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014).For a discussion of genetic heterogeneity of ocular coloboma, see {120200}.

Related symptoms:

  • Nystagmus
  • Cataract
  • Reduced visual acuity
  • Coloboma
  • Iris coloboma


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE

Low match DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108


Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development
  • Peripheral neuropathy
  • Coloboma


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match CATARACT 9, MULTIPLE TYPES; CTRCT9


Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.

CATARACT 9, MULTIPLE TYPES; CTRCT9 Is also known as cataract, autosomal recessive congenital 1|cataract, autosomal dominant|catc1|cataract 9, multiple types, with or without microcornea

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about CATARACT 9, MULTIPLE TYPES; CTRCT9

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5


Related symptoms:

  • Microphthalmia
  • Coloboma
  • Oral cleft
  • Iris coloboma
  • Holoprosencephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Visual impairment
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9

Low match COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME


COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME Is also known as macom syndrome

Related symptoms:

  • Nystagmus
  • Strabismus
  • Myopia
  • Reduced visual acuity
  • Coloboma


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10; MCOPCB10


Related symptoms:

  • Seizures
  • Global developmental delay
  • Atrial septal defect
  • Microphthalmia
  • Coloboma


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10; MCOPCB10

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6


Related symptoms:

  • Nystagmus
  • Visual impairment
  • Microphthalmia
  • Coloboma
  • Iris coloboma


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6

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

Symptoms // Phenotype % cases
Coloboma Very Common - Between 80% and 100% cases
Nystagmus Common - Between 50% and 80% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Microcornea Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Reduced visual acuity Chorioretinal coloboma Visual impairment

Rare Symptoms - Less than 30% cases


Visual loss Intellectual disability Strabismus Bilateral microphthalmos Global developmental delay Congenital cataract Esotropia Anophthalmia Myopia Retinal detachment Pendular nystagmus Increased intraocular pressure High myopia Macular atrophy Holoprosencephaly Scleral staphyloma Posterior staphyloma Seizures Atrial septal defect Orbital cyst Microcoria Hypoplasia of the fovea Rotary nystagmus Optic disc hypoplasia Abnormality of vision Glaucoma Oral cleft Peripheral neuropathy Corneal opacity Corneal dystrophy Exotropia Lens subluxation Hypertropia Hearing impairment Sensorineural hearing impairment Delayed speech and language development Abnormality of the ear Progressive cataract Retinopathy Retinal dystrophy Retinal atrophy Posterior synechiae of the anterior chamber Amblyopia Subcapsular cataract Posterior subcapsular cataract Nuclear cataract Lamellar cataract Abnormal temporal bone morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Diabetes mellitus, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more