Ataxia, and Astigmatism

Diseases related with Ataxia and Astigmatism

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


Top matches:

Low match USHER SYNDROME TYPE 3


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 3

Low match LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11


Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Low match CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES


Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).CFEOM2 (OMIM ), an autosomal recessive disorder caused by mutation in the ARIX gene (OMIM ) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (OMIM ) is caused by mutation in the TUBB3 gene (OMIM ) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (OMIM ) on chromosome 12q12; and CFEOM3C (OMIM ) maps to chromosome 13q.CFEOM4 (OMIM ), also known as Tukel syndrome, maps to chromosome 21q.CFEOM5 (OMIM ) is caused by mutation in the COL25A1 gene (OMIM ) on chromosome 4q25.See also NOMENCLATURE below.

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES Is also known as feom|feom1 locus|ophthalmoplegia, congenital|blepharoptosis with absent eye movements

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Ptosis
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES

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Other less relevant matches:

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

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 8


Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

PONTOCEREBELLAR HYPOPLASIA TYPE 8 Is also known as pontocerebellar hypoplasia due to chmp1a mutation|pch8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 8

Low match HERMANSKY-PUDLAK SYNDROME TYPE 7


HERMANSKY-PUDLAK SYNDROME TYPE 7 Is also known as hps7

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Respiratory distress
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 7

Low match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS


Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

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 ANGELMAN SYNDROME; AS


Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Top 5 symptoms//phenotypes associated to Ataxia and Astigmatism

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

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Gait ataxia Myopia Short stature Spasticity Gastroesophageal reflux Seizures Feeding difficulties Hearing impairment Hypermetropia Strabismus Reduced visual acuity Optic atrophy Deeply set eye Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Abnormal cerebellum morphology Neonatal hypotonia Flexion contracture Hyperreflexia Dysphagia Dysarthria Dysmetria Muscular hypotonia of the trunk Absent speech Autism Hyperactivity Scoliosis Delayed myelination Neurological speech impairment Abnormal facial shape Hypertelorism Micropenis Cerebellar hypoplasia Intrauterine growth retardation Cryptorchidism Albinism Hypopigmentation of the skin Postnatal microcephaly Chorea Exotropia Progressive gait ataxia Motor delay Hypoplasia of the corpus callosum Esotropia Leukodystrophy Hyporeflexia Progressive cerebellar ataxia Neoplasm Abnormality of the nervous system Cataract Tremor Depressivity Anxiety Muscle cramps Brain atrophy Erythema Papule Attention deficit hyperactivity disorder Microdontia Proteinuria Photophobia Prominent nose Pigmentary retinopathy Cutaneous photosensitivity Decreased body weight Cafe-au-lait spot Bone marrow hypocellularity Neoplasm of the skin Freckling Tubular atrophy Verrucae Morphological abnormality of the central nervous system Defective DNA repair after ultraviolet radiation damage Cholangiocarcinoma Seborrheic keratosis Numerous pigmented freckles Dementia Hypertension Cerebral atrophy Poor head control Visual loss Synophrys Long face Downturned corners of mouth Triangular face Broad nasal tip Vesicoureteral reflux Decreased fetal movement Apraxia Stereotypy Short chin Abnormality of the genitourinary system Deep philtrum Renal insufficiency Overfolded helix Myopathic facies Delayed ability to walk Inverted nipples Pain insensitivity Oval face Horizontal eyebrow Overfolding of the superior helices Broad chin Growth delay Anemia Fever Muscular hypotonia Behavioral abnormality Macrocephaly Overweight Cerebral palsy Drooling Hyperkinesis Incoordination Self-injurious behavior Flat occiput Polyphagia Keratoconus Atonic seizures Protruding tongue Drowsiness Epileptic spasms Intellectual disability, progressive Blue irides Fair hair Short attention span Profound global developmental delay Moderate global developmental delay Happy demeanor Limb tremor Inappropriate laughter Sleep-wake cycle disturbance Large foramen magnum Tongue thrusting Paroxysmal bursts of laughter Widely spaced teeth Aspiration Intellectual disability, severe Wide mouth Vomiting Kyphosis Obesity Encephalopathy Inguinal hernia Constipation Brachycephaly Cerebral cortical atrophy Mandibular prognathia EEG abnormality Feeding difficulties in infancy Autistic behavior Abnormality of movement Abnormality of the face Infertility Falls Sleep disturbance Hypoplasia of the maxilla Macroglossia Focal-onset seizure Overgrowth Generalized-onset seizure Intellectual disability, profound Status epilepticus Broad-based gait Clumsiness Prominent nasal bridge Anteverted nares Thin upper lip vermilion Impaired distal vibration sensation Spastic gait Clonus Paraparesis Spastic paraparesis Impaired vibratory sensation Distal lower limb amyotrophy Corpus callosum atrophy Spastic dysarthria Areflexia of lower limbs Titubation Hyporeflexia of lower limbs Temporal optic disc pallor Paraplegia Hypogonadism Abnormality of the dentition Visual impairment Talipes equinovarus Abnormal cochlea morphology Vestibular hypofunction Pes cavus Hemianopia Iris hypopigmentation Severe global developmental delay Arthrogryposis multiplex congenita Abnormality of the foot Neurodegeneration CNS hypomyelination Peripheral visual field loss Blepharophimosis Diplopia Bilateral ptosis Abnormal cranial nerve morphology Congenital ptosis Congenital fibrosis of extraocular muscles Restrictive external ophthalmoplegia Compensatory chin elevation Levator palpebrae superioris atrophy Superior rectus atrophy Sensory exotropia Secondary esotropia Ophthalmoplegia Cognitive impairment Abnormality of the cerebral white matter Peripheral neuropathy Myopathy Ventriculomegaly Hypertonia Areflexia Babinski sign Glaucoma Difficulty walking Ptosis Intellectual disability, moderate Abnormal pyramidal sign Spastic paraplegia Poor speech Hypertrichosis High forehead Metaphyseal widening Hallucinations Progressive visual loss Ventricular septal defect Hypospadias Nyctalopia Abnormality of the eye Retrognathia Hypotelorism Rhizomelia Coxa valga Accelerated skeletal maturation Scrotal hypoplasia 2-3 toe syndactyly High palate Scaphocephaly Obstructive sleep apnea Broad femoral neck Rod-cone dystrophy Pain Low-set ears Delayed speech and language development Epicanthus Downslanted palpebral fissures Amblyopia Posteriorly rotated ears Prominent forehead Progressive hearing impairment Schizophrenia Involuntary movements Intracranial hemorrhage High hypermetropia Cerebral visual impairment Hypoplasia of the brainstem Talipes valgus Muscle weakness Respiratory distress Bruising susceptibility Scotoma Abnormal bleeding Epistaxis Abnormal lung morphology Optic nerve hypoplasia Visual field defect Cleft palate Menorrhagia Interstitial pulmonary abnormality Colitis Hypoplasia of the fovea Ocular albinism Impaired platelet aggregation Hypopigmentation of the fundus Hyperopic astigmatism Vestibular dysfunction Abnormal electroretinogram Failure to thrive Micrognathia Anisometropia



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