Hearing impairment, and Congenital cataract

Diseases related with Hearing impairment and Congenital cataract

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


Top matches:

Medium match MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME


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

Medium match CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME


Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.

CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME Is also known as myopathy with cataract and combined respiratory chain deficiency|mitochondrial complex deficiency, combined|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME

Medium match CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME


Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.

CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME Is also known as congenital cataract-deafness-severe developmental delay syndrome|lethal neurodegenerative disorder due to copper transport defect

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME

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Other less relevant matches:

Medium match X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME


The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.

X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME Is also known as xq22.3 microdeletion syndrome|chromosome xq22.3 centromeric deletion syndrome|alport syndrome and diffuse leiomyomatosis|leiomyomatosis, esophageal and vulval, with nephropathy|ats-dl

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME

Medium match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG


For a general description of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG Is also known as xp, group g|xpgc|xeroderma pigmentosum vii|xp7

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

Medium match PEROXISOME BIOGENESIS DISORDER 14B; PEX14B


PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (OMIM ) spectrum' (ZSS) disorder. See PBD1B (OMIM ) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (OMIM ) for another atypical peroxisome biogenesis disorder.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 14B; PEX14B

Medium match COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD


Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Medium match CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Medium match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A Is also known as ad-spg9a|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome

Related symptoms:

  • Seizures
  • Sensorineural hearing impairment
  • Muscle weakness
  • Tremor
  • Babinski sign


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A

Medium match ANTERIOR SEGMENT DYSGENESIS 1; ASGD1


Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD1 have been reported with the Peters anomaly subtype.In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).

ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 Is also known as anterior segment mesenchymal dysgenesis|asmd|anterior segment ocular dysgenesis|asod

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 1; ASGD1

Top 5 symptoms//phenotypes associated to Hearing impairment and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microphthalmia Muscle weakness Photophobia Generalized hypotonia

Rare Symptoms - Less than 30% cases


Seizures Growth delay Intrauterine growth retardation Microcephaly Rotary nystagmus Progressive sensorineural hearing impairment Tremor Pes cavus Progressive hearing impairment Ptosis Microcornea Vomiting Cutaneous photosensitivity Micrognathia Glaucoma Urinary incontinence Convex nasal ridge Psychosis Falls Postural instability Muscle cramps Abnormal cerebellum morphology Memory impairment Mitral regurgitation Abnormality of the cerebral white matter Spastic gait Albinism Horizontal nystagmus Urinary urgency Lower limb hyperreflexia Preauricular pit Impaired vibration sensation in the lower limbs Enlarged cisterna magna Premature graying of hair Abnormal pyramidal sign Shallow orbits Micropenis Scrotal hypoplasia Single transverse palmar crease Camptodactyly of finger Sparse hair Deeply set eye Kyphoscoliosis Spastic dysarthria Rocker bottom foot Interphalangeal joint contracture of finger Large beaked nose Babinski sign Dementia Flexion contracture Generalized hypopigmentation Blue irides Osteopetrosis Corpus callosum atrophy Abnormality of pain sensation Low back pain Peters anomaly Hypoplasia of the iris Increased intraocular pressure Sclerocornea Corneal erosion Ectopia pupillae Optic nerve coloboma Abnormality of the optic nerve Corneal neovascularization Anterior segment developmental abnormality Abnormality of the hypothalamus-pituitary axis Posterior embryotoxon Anterior synechiae of the anterior chamber Macular hypoplasia Posterior polar cataract Aplasia/Hypoplasia of the iris Rieger anomaly Polycoria Abnormality of the sense of smell Axenfeld anomaly Aphakia Iris hypopigmentation Aniridia Lower limb pain Abnormality of the dentition Lower limb hypertonia Pollakisuria Anarthria Hyperreflexia in upper limbs Abnormality of the dorsal column of the spinal cord Strabismus Visual impairment Myopia Atrial septal defect Behavioral abnormality Keratoconjunctivitis sicca Umbilical hernia Corneal opacity Short palpebral fissure Abnormality of the genital system Opacification of the corneal stroma Aplasia/Hypoplasia of the corpus callosum Optic nerve hypoplasia Ectopia lentis Keratitis Keratoconus Congenital sensorineural hearing impairment Dry skin Coloboma Abnormal muscle fiber protein expression Myopathy Muscular hypotonia of the trunk Lactic acidosis Reduced tendon reflexes Bilateral ptosis Decreased activity of mitochondrial respiratory chain Infantile axial hypotonia Decreased serum ferritin Cerebellar atrophy Muscular hypotonia Cerebral atrophy Absent speech Severe global developmental delay Neurodegeneration Neutropenia Dandy-Walker malformation Cerebellar vermis hypoplasia CNS hypomyelination Hypoplasia of the corpus callosum Macular thickening Decreased serum ceruloplasmin Cone/cone-rod dystrophy Blindness Rod-cone dystrophy Reduced visual acuity Nyctalopia Hypermetropia Retinal degeneration Abnormality of skin pigmentation Hypopigmentation of the skin High hypermetropia Foveoschisis Drusen Bone spicule pigmentation of the retina Retinal pigment epithelial atrophy Cystoid macular edema Shallow anterior chamber Abnormal light- and dark-adapted electroretinogram Scleral thickening Optic disc drusen Hypocupremia Failure to thrive Telecanthus Headache Small for gestational age Intention tremor Broad-based gait Neoplasm of the skin Infantile spasms Bilateral microphthalmos Defective DNA repair after ultraviolet radiation damage Intellectual disability, mild Areflexia Mental deterioration Polyneuropathy Migraine Bilateral sensorineural hearing impairment Arnold-Chiari type I malformation Hydrocele testis Macrocephaly Frontal bossing Posteriorly rotated ears Erythema Spasticity Dysphagia Skeletal muscle hypertrophy Constipation Dyspnea Proteinuria Cough Stage 5 chronic kidney disease Hematuria Nephropathy Asthma Wheezing Ataxia Microscopic hematuria Macroscopic hematuria Thickening of the glomerular basement membrane Lenticonus High-frequency sensorineural hearing impairment Diffuse glomerular basement membrane lamellation Diffuse leiomyomatosis Anterior lenticonus Tracheobronchial leiomyomatosis Macular hypopigmentation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Muscular hypotonia of the trunk, related diseases and genetic alterations Intellectual disability, severe and Delayed myelination, related diseases and genetic alterations Epicanthus and Hypodontia, related diseases and genetic alterations Strabismus and Osteosarcoma, related diseases and genetic alterations Micrognathia and Macrocephaly, related diseases and genetic alterations

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