Optic atrophy, and Abnormality of the pinna

Diseases related with Optic atrophy and Abnormality of the pinna

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


Top matches:

Low match OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME


Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Low match ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME


Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib

Related symptoms:

  • Ptosis
  • Visual impairment
  • Optic atrophy
  • Pectus excavatum
  • Inguinal hernia


SOURCES: ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME

Low match AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME


Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA; see this term) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.

AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME Is also known as doa+|optic atrophy-deafness-polyneuropathy-myopathy syndrome

Related symptoms:

  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment
  • Optic atrophy
  • Reduced tendon reflexes


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME

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Other less relevant matches:

Low match OPTIC ATROPHY 11; OPA11


OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY 11; OPA11

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49


Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 9


Pontocerebellar hypoplasia type 9 is a rare, genetic, subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.

PONTOCEREBELLAR HYPOPLASIA TYPE 9 Is also known as pch9

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 9

Low match WARBURG MICRO SYNDROME 2; WARBM2


WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

Low match WOLFRAM-LIKE SYNDROME


Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

Low match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW


NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

Low match CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

Top 5 symptoms//phenotypes associated to Optic atrophy and Abnormality of the pinna

Symptoms // Phenotype % cases
Visual impairment Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macrotia Ventriculomegaly Absent speech Seizures Abnormal facial shape Strabismus Muscular hypotonia of the trunk Hearing impairment Spasticity Hypoplasia of the corpus callosum Cerebral visual impairment

Rare Symptoms - Less than 30% cases


Hypermetropia Hyperactivity Peripheral neuropathy Sensorineural hearing impairment Midface retrusion Dystonia Hyperreflexia Brain atrophy Blindness Nystagmus Peripheral axonal neuropathy Abnormality of color vision Delayed myelination Epicanthus Ataxia Postnatal microcephaly Anxiety Prominent nasal bridge Tapered finger Severe global developmental delay Overlapping toe Ptosis Flexion contracture Upslanted palpebral fissure Deeply set eye Ophthalmoplegia Facial hypotonia Progressive cerebellar ataxia Retinopathy Progressive hearing impairment Hallucinations Psychosis Delayed puberty Schizophrenia Type II diabetes mellitus Bilateral sensorineural hearing impairment Autistic behavior Cystic hygroma Pallor Respiratory insufficiency Low anterior hairline Scrotal hypoplasia Spastic diplegia Global brain atrophy Hypoplastic labia majora Asymmetry of the ears Undetectable visual evoked potentials Myopathy Hypothyroidism Depressivity Visual loss Dementia Glucose intolerance Diabetes mellitus Glaucoma Autism Congenital sensorineural hearing impairment Central diabetes insipidus Diabetes insipidus Respiratory distress Drooling Optic nerve hypoplasia Poor eye contact Mild microcephaly Bruxism Happy demeanor Feeding difficulties Hernia Cerebellar vermis hypoplasia Patent ductus arteriosus Umbilical hernia Jaundice Developmental regression Pulmonic stenosis Wide intermamillary distance Coarctation of aorta Absence seizures Stereotypy Double outlet right ventricle Scotoma Polymicrogyria Optic neuropathy Severe vision loss Severe postnatal growth retardation Male hypogonadism Gastrointestinal dysmotility Abnormality of the upper urinary tract Hypoplastic left heart Primary gonadal insufficiency Moderate hearing impairment Hip dysplasia Abnormality of the skeletal system Talipes equinovarus Clinodactyly Pes cavus Gait ataxia Difficulty walking Unsteady gait Single transverse palmar crease Microcornea Abnormality of the nervous system Congenital cataract Dysmetria Impaired pain sensation Abnormality of visual evoked potentials Short stature Myopia Macrocephaly Cerebellar hypoplasia Amblyopia Reduced tendon reflexes Leukoencephalopathy Hyperkinesis Abnormality of mitochondrial metabolism Facial diplegia Abnormality of the basal ganglia Frontal bossing Hydrocephalus Decreased nerve conduction velocity Absent palmar crease Encephalopathy Pectus excavatum Anteverted nares Reduced visual acuity Protruding ear Optic disc pallor Obsessive-compulsive behavior Visual field defect Inguinal hernia Congenital finger flexion contractures Joint stiffness Arachnodactyly Triangular face Abnormal electroretinogram Bilateral talipes equinovarus Deviation of finger Dimple chin Hypertonia Myoclonus Postnatal growth retardation Profound global developmental delay Cerebral cortical atrophy Macroglossia Narrow forehead Progressive microcephaly Clonus Areflexia of lower limbs Short upper lip Areflexia Cataract Cryptorchidism Intellectual disability, severe Short nose Microphthalmia Brachycephaly Micropenis Babinski sign Dysphagia Coarse facial features Cerebral calcification EEG abnormality Short philtrum Everted lower lip vermilion Tetraplegia Prominent nose Dandy-Walker malformation Epileptic encephalopathy Hypotelorism Downslanted palpebral fissures Spastic tetraplegia Open mouth Long eyelashes Holoprosencephaly Thick upper lip vermilion Fusion of the left and right thalami Wide nasal bridge Tethered cord



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