Cognitive impairment, and Astigmatism

Diseases related with Cognitive impairment and Astigmatism

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


Top matches:

Low match DYSTONIA 28, CHILDHOOD-ONSET; DYT28


Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many patients also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by Zech et al., 2016 and Meyer et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DYSTONIA 28, CHILDHOOD-ONSET; DYT28

Low match ISOLATED ECTOPIA LENTIS


Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

ISOLATED ECTOPIA LENTIS Is also known as ectopia lentis syndrome|familial ectopia lentis

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ECTOPIA LENTIS

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75


Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

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Other less relevant matches:

Low match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Low match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Low match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF


Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Low match RETINITIS PIGMENTOSA 51; RP51


Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 51; RP51

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME


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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Astigmatism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Astigmatism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar atrophy Dementia Ectopia pupillae Reduced visual acuity Hypertension Cataract Short stature Scoliosis Hearing impairment Proteinuria Growth delay Dysarthria Seizures

Rare Symptoms - Less than 30% cases


High myopia Depressivity Migraine Microcornea Peripheral neuropathy Optic atrophy Muscle cramps Deeply set eye Nephropathy Glaucoma Prominent nose Hematuria Corneal opacity Hydrocephalus Stroke Abnormal facial shape Abnormality of the cerebral white matter Hypermetropia Malabsorption Abnormality of the nervous system Abnormal cerebellum morphology Bone marrow hypocellularity Paraparesis Spastic paraparesis Headache Rod-cone dystrophy Cardiomyopathy Microphthalmia Polydactyly Renal insufficiency Mandibular prognathia Intrauterine growth retardation Photophobia Dysphonia Tremor Visual impairment Motor delay Anemia Delayed speech and language development Brain atrophy Bulbous nose Spasticity Amblyopia Microdontia Sensorineural hearing impairment Depressed nasal bridge Diarrhea Abnormal light- and dark-adapted electroretinogram Fever Short neck Vomiting Posterior leukoencephalopathy Cafe-au-lait spot Recurrent infections Congestive heart failure Abnormality of the dentition Kyphosis Immunodeficiency Bone spicule pigmentation of the retina Thrombocytopenia Pneumonia Hypothyroidism Osteopenia Thin upper lip vermilion Abnormality of the kidney Developmental regression Hyperlordosis Thalamic hemorrhage Nyctalopia Ataxia Erythema Neoplasm of the skin Cutaneous photosensitivity Delayed myelination Freckling Tubular atrophy Chorea Progressive cerebellar ataxia Morphological abnormality of the central nervous system Defective DNA repair after ultraviolet radiation damage Papule Attention deficit hyperactivity disorder Cholangiocarcinoma Neoplasm Seborrheic keratosis Hyperactivity Cerebral atrophy Numerous pigmented freckles Blindness Feeding difficulties Flexion contracture Pallor Decreased body weight Macular degeneration Attenuation of retinal blood vessels Verrucae Abnormal lung morphology Scarring Lymphoproliferative disorder Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy B-cell lymphoma Arteriosclerosis Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Right ventricular cardiomyopathy Hypoplasia of the capital femoral epiphysis Steatorrhea Premature arteriosclerosis Profound hearing impairment Bilateral sensorineural hearing impairment Vertigo Conductive hearing impairment Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Moyamoya phenomenon Mucopolysacchariduria Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Multiple cafe-au-lait spots Hypermelanotic macule Autoimmunity Waddling gait Abnormal form of the vertebral bodies Right hemiplegia Fine hair Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Decreased testicular size Lymphoma Abnormality of epiphysis morphology Premature birth Gliosis Neutropenia Abnormality of skin pigmentation Stage 5 chronic kidney disease Platyspondyly Hip dislocation Heterotopia Lymphopenia Combined immunodeficiency Epiphyseal dysplasia High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Glomerulosclerosis Opacification of the corneal stroma Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Retinal arterial tortuosity Leukoencephalopathy Peripapillary atrophy Clonus Areflexia of lower limbs Spastic dysarthria Corpus callosum atrophy Distal lower limb amyotrophy Impaired vibratory sensation Leukodystrophy Spastic gait Hyporeflexia of lower limbs Neurodegeneration Dysmetria Paraplegia Spastic paraplegia Abnormal pyramidal sign Intellectual disability, moderate Titubation Impaired distal vibration sensation Difficulty walking Abnormality of the musculature Adrenal medullary hypoplasia Cortical tubers Patellar subluxation Megalencephaly Patellar dislocation Scaphocephaly Celiac disease Temporal optic disc pallor Pointed chin Psychosis Dolichocephaly Broad forehead Coarse facial features Macrocephaly Neonatal hypotonia Babinski sign Micrognathia Toe walking Abnormal posturing Oromandibular dystonia Laryngeal dystonia Mild microcephaly Generalized dystonia Limb dystonia Torticollis Retrocollis Clumsiness Abnormality of eye movement Abnormality of the eye Myoclonus Dystonia Gait disturbance Craniofacial dystonia Malar flattening Hyporeflexia Iris atrophy Areflexia Hypertonia Ventriculomegaly Generalized hypotonia Myopic astigmatism Posterior synechiae of the anterior chamber Homocystinuria Abnormal heart morphology Abnormal pupil morphology Uveitis Ectopia lentis Joint hypermobility Arachnodactyly Joint stiffness Hypertelorism Cleft palate Retinal arteriolar tortuosity Intracranial hemorrhage Infantile spasms Scotoma Congenital glaucoma Blurred vision Cerebral hemorrhage Hemiplegia Hemiparesis Hypoplasia of the iris Spastic tetraplegia Tetraplegia Renal cyst Hypopigmentation of the skin Retinal detachment Tachycardia Posterior embryotoxon Increased intraocular pressure Retinopathy Neuritis Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Polycoria Rieger anomaly Arterial tortuosity Retinal hemorrhage Supraventricular tachycardia Migraine with aura Porencephalic cyst Hypopigmentation of the fundus Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Corneal neovascularization Congenital cataract Facial palsy Ptosis Wide mouth Renal hypoplasia Cerebellar vermis hypoplasia Intestinal malrotation Iris coloboma Prominent nasal bridge Coloboma Abnormality of the pinna Optic nerve hypoplasia Hydronephrosis Agenesis of corpus callosum Cerebellar hypoplasia Myopathy Wide nasal bridge Low-set ears Short palpebral fissure Preaxial polydactyly Elevated serum creatine phosphokinase Bilateral renal hypoplasia Dilatation Intellectual disability, mild Strabismus Corneal astigmatism Jejunal atresia Hypoplastic iris stroma Retinal vascular tortuosity Short columella Accessory spleen Intestinal atresia Peters anomaly Sex reversal Duodenal atresia Sclerocornea Albuminuria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Flat face, related diseases and genetic alterations Lymphoma and Paraplegia, related diseases and genetic alterations High palate and Hip dysplasia, related diseases and genetic alterations Immunodeficiency and Polyhydramnios, related diseases and genetic alterations

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