Optic atrophy, and Esotropia

Diseases related with Optic atrophy and Esotropia

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


Top matches:

Medium 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

Medium match ALTERNATING HEMIPLEGIA OF CHILDHOOD


Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

Medium match NEONATAL ADRENOLEUKODYSTROPHY


Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

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Other less relevant matches:

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 10


Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

Medium match GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME


Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME

Medium match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Medium match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Medium match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Top 5 symptoms//phenotypes associated to Optic atrophy and Esotropia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Optic atrophy and Esotropia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Abnormal facial shape Dystonia Spasticity Delayed speech and language development Hypoplasia of the corpus callosum Cerebellar atrophy Frontal bossing Absent speech Hyperreflexia Microcephaly High palate Cataract Ataxia Visual impairment Cryptorchidism Muscular hypotonia of the trunk Sensorineural hearing impairment Ptosis Hearing impairment Scoliosis Hypertelorism Myopia Developmental regression Micrognathia Abnormality of the cerebral white matter Progressive microcephaly

Rare Symptoms - Less than 30% cases


Macrocephaly Retinal dystrophy High forehead Prominent supraorbital ridges Epicanthus Muscular hypotonia Anteverted nares Skeletal dysplasia Wide anterior fontanel Delayed myelination Mandibular prognathia Midface retrusion Malar flattening Depressed nasal bridge Deeply set eye Cerebral atrophy Irritability Peripheral neuropathy Thin upper lip vermilion Proptosis Short nose Hypertonia Upslanted palpebral fissure Ventriculomegaly Short stature Esodeviation Exotropia Headache Astigmatism Amblyopia Abnormality of eye movement Gait ataxia Cognitive impairment Paralysis Chorea Abnormal cranial nerve morphology Increased serum lactate Dysplastic corpus callosum Hoarse cry Cerebral dysmyelination Titubation Decreased light- and dark-adapted electroretinogram amplitude Motor deterioration Progressive psychomotor deterioration Developmental stagnation Inability to walk Micropenis Distal amyotrophy Long face Peripheral axonal neuropathy Oligosacchariduria Abnormality of mucopolysaccharide metabolism Truncal titubation Abnormality of ganglioside metabolism Failure to thrive Cleft palate Long philtrum Prominent forehead Gastroesophageal reflux Osteopenia Pes planus Increased serum ferritin Severe vision loss Abnormality of abdomen morphology Hepatosplenomegaly Broad clavicles Sclerotic vertebral endplates Trigeminal neuralgia 2-3 finger syndactyly Sclerotic scapulae Curved distal phalanges of the hand Facial palsy secondary to cranial hyperostosis Cortically dense long tubular bones Anemia Babinski sign Reduced visual acuity Optic nerve hypoplasia Coarse facial features Photophobia Wide mouth Abnormality of the nervous system Corneal opacity Absence seizures Retinal degeneration Spastic tetraplegia High myopia Hip dysplasia Aciduria Progressive neurologic deterioration Aspiration Opacification of the corneal stroma Iron deficiency anemia Palpebral edema Joint laxity Prominent nasal bridge Abnormality of the foot Apnea Flat occiput Brittle hair Hypoplasia of the brainstem Premature loss of teeth Clitoral hypertrophy Oculomotor apraxia Hypergonadotropic hypogonadism Fasciculations Ambiguous genitalia Nevus Capillary hemangioma Gliosis Spastic paraplegia Macrotia Hemangioma Decreased skull ossification Delayed closure of the anterior fontanelle Hypoplasia of teeth Narrow iliac wings High iliac wings Sutural cataract Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Forehead hyperpigmentation Muscle weakness Cerebellar hypoplasia Myoclonus Coarse hair Deviation of finger Sparse hair Sex reversal Hypogonadism Delayed puberty Congenital cataract Pectus carinatum Hypertrophic cardiomyopathy Narrow chest Carious teeth Delayed skeletal maturation Cardiomyopathy Abnormality of the skeletal system Feeding difficulties Olivopontocerebellar hypoplasia Microphallus Thick upper lip vermilion Large fontanelles Pulmonic stenosis Joint hyperflexibility Smooth philtrum Abnormality of skin pigmentation Thin vermilion border Wide nose Delayed eruption of teeth Hypoplasia of the maxilla Hypoplasia of the pons Bifid uvula Prominent nose Microdontia Nevus flammeus Hyperpigmentation of the skin Intellectual disability, progressive Diaphyseal thickening Anhidrosis Migraine Status epilepticus Hemiparesis Choreoathetosis Involuntary movements Bradycardia Muscle stiffness Abnormal autonomic nervous system physiology Slurred speech Hemiplegia Stridor Impulsivity Oral-pharyngeal dysphagia Wheezing Tetraplegia Facial paralysis Abnormality of the mitochondrion Bronchospasm Episodic quadriplegia Episodic hemiplegia Low-set ears Abnormality of metabolism/homeostasis EEG abnormality Low-set, posteriorly rotated ears Abnormality of the liver Severe global developmental delay Dolichocephaly Abnormality of movement Parkinsonism Generalized tonic-clonic seizures Abnormality of retinal pigmentation Levator palpebrae superioris atrophy Myopathy Depressivity Blepharophimosis Ophthalmoplegia Progressive cerebellar ataxia Pigmentary retinopathy Diplopia Bilateral ptosis Progressive gait ataxia Congenital ptosis Congenital fibrosis of extraocular muscles Restrictive external ophthalmoplegia Compensatory chin elevation Superior rectus atrophy Mental deterioration Sensory exotropia Secondary esotropia Pain Fatigue Dysphagia Respiratory distress Immunodeficiency Recurrent infections Areflexia Pes cavus Hyperhidrosis Dyspnea Abnormality of the eye High, narrow palate Decreased liver function Fingernail dysplasia Dental malocclusion Low anterior hairline Abnormal electroretinogram Limb hypertonia Abnormality of visual evoked potentials Corpus callosum atrophy Short upper lip Prominent fingertip pads Laryngotracheomalacia Syndactyly Visual loss Hyperactivity Facial palsy Finger syndactyly Nail dysplasia Gingival overgrowth Overgrowth Tall stature Increased bone mineral density Cutaneous syndactyly Increased intracranial pressure Anosmia Abnormality of pelvic girdle bone morphology Constriction of peripheral visual field Hyperostosis Broad ribs Abnormal cortical bone morphology Abnormality of the nose Craniofacial hyperostosis Cerebral visual impairment Postnatal microcephaly Bilateral single transverse palmar creases Sensorimotor neuropathy Abnormal palate morphology Abnormality of neuronal migration Adrenal insufficiency Primary adrenal insufficiency Polar cataract Elevated long chain fatty acids Growth delay Encephalopathy Cerebral cortical atrophy Highly arched eyebrow Brain atrophy Underdeveloped nasal alae Long eyelashes Delayed gross motor development Anal atresia Poor head control Cortical gyral simplification Progressive spasticity Long palpebral fissure Poor eye contact Abnormality of brainstem morphology Delayed fine motor development Abnormality of the cerebral cortex Visual fixation instability Hyporeflexia Retrognathia Short philtrum Hypermetropia Abnormality of mitochondrial metabolism



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Nail dysplasia, related diseases and genetic alterations Hepatomegaly and Hypoplasia of the maxilla, related diseases and genetic alterations

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