Optic atrophy, and Narrow forehead

Diseases related with Optic atrophy and Narrow forehead

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


Top matches:

High match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

High match PEHO-LIKE SYNDROME


PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

High match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

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Other less relevant matches:

High match PONTOCEREBELLAR HYPOPLASIA TYPE 6


Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.

PONTOCEREBELLAR HYPOPLASIA TYPE 6 Is also known as fatal infantile encephalopathy with mitochondrial respiratory chain defects|pch6|encephalopathy, fatal infantile, with mitochondrial respiratory chain defects

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 6

High 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

High match NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA


NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

High match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

High match NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B


Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib|charcot-marie-tooth disease, type 6b|cmt6b

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

High match LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME


Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014).

LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME Is also known as lethal neonatal rigidity-multifocal seizure syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME

High match PEHO SYNDROME


PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

Top 5 symptoms//phenotypes associated to Optic atrophy and Narrow forehead

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Hyperreflexia Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Cerebellar atrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar hypoplasia

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum

Common Symptoms - More than 50% cases


Progressive microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment Absent speech Intellectual disability Brain atrophy Flexion contracture Encephalopathy Blindness Myoclonus Abnormal facial shape Cerebral visual impairment Ventriculomegaly Hypertonia Progressive visual loss Short nose Cerebral cortical atrophy Feeding difficulties Babinski sign Midface retrusion Cerebral atrophy Full cheeks Hypsarrhythmia Epicanthus Failure to thrive Atrophy/Degeneration affecting the brainstem Narrow palate Infantile encephalopathy Visual loss Tapered finger Delayed myelination Muscular hypotonia of the trunk Dysmetria Tremor Anteverted nares Delayed speech and language development Macrotia Myopia EEG abnormality Depressed nasal bridge Low-set ears Ataxia Generalized-onset seizure Scoliosis Status epilepticus Clonus

Rare Symptoms - Less than 30% cases


Fine hair Neuronal loss in central nervous system Tented upper lip vermilion Abnormal autonomic nervous system physiology Hyporeflexia Apnea Generalized myoclonic seizures Talipes Abnormality of the cerebral white matter Global brain atrophy Peripheral neuropathy Downslanted palpebral fissures Proptosis Dysphagia Protruding ear Talipes equinovarus Dystonia Skeletal muscle atrophy Cataract Thin vermilion border Areflexia Polymicrogyria Wide nasal bridge Kyphoscoliosis Retrognathia Hypertelorism Sloping forehead Intellectual disability, profound Open mouth Pachygyria Severe muscular hypotonia Infantile muscular hypotonia Central hypotonia Nystagmus Inability to walk Muscular hypotonia Gait ataxia Edema Bulbous nose Dry skin Polyhydramnios Acidosis Respiratory failure Micrognathia Upslanted palpebral fissure Rigidity Pes cavus Pontocerebellar atrophy Respiratory distress Muscle weakness Gliosis Hearing impairment Hand clenching Sparse eyebrow Trophic changes related to pain Difficulty walking Distal amyotrophy Peripheral demyelination Distal sensory impairment Sensory neuropathy Polyneuropathy Lactic acidosis Severe global developmental delay Sensory impairment Round face Cone dysfunction syndrome Sensorimotor neuropathy Pallor Irritability Steppage gait Inverted nipples Absent Achilles reflex Exotropia Reduced visual acuity Epileptic encephalopathy Progressive encephalopathy Abnormal palate morphology Infantile spasms Biparietal narrowing Drowsiness Palpebral edema Epileptic spasms External ear malformation Edema of the lower limbs Limitation of joint mobility Developmental stagnation Periventricular leukomalacia Porencephalic cyst Peripheral edema Abnormality of upper lip Edema of the dorsum of hands Edema of the dorsum of feet Peripheral dysmyelination Gingival overgrowth Abnormality of movement Sparse eyelashes Multifocal seizures Bradycardia Abnormality of mitochondrial metabolism Dysphasia Muscle fibrillation Mild microcephaly Limb joint contracture Myoclonic spasms Hypoplasia of the frontal lobes Abnormality of eye movement Uplifted earlobe Hydrocephalus Intellectual disability, severe Malar flattening Recurrent respiratory infections Abnormality of the eye Feeding difficulties in infancy Arthrogryposis multiplex congenita Brittle hair Agenesis of corpus callosum Cognitive impairment Short stature Brachydactyly Clinodactyly Strabismus Deeply set eye Growth delay Prominent nasal bridge Lethargy Increased serum lactate Nonprogressive visual loss Cerebellar vermis hypoplasia Lower limb spasticity Poor head control Adducted thumb Poor suck Increased CSF lactate Upper airway obstruction Short neck Hyposegmentation of neutrophil nuclei Small posterior fossa Small hand Postnatal growth retardation Hypermetropia Facial asymmetry Micromelia Long face Delayed skeletal maturation Thick eyebrow Single transverse palmar crease Blue cone monochromacy Syndactyly Long philtrum Sandal gap Cutis laxa Dyschromatopsia Achromatopsia Prominent glabella Upper limb spasticity Neonatal hypotonia Broad-based gait Kyphosis Tetraparesis Spastic tetraparesis Plagiocephaly Multiple joint contractures Hypoventilation Central hypoventilation Abnormality of the dentition Dysarthria Prominent forehead Brachycephaly Joint stiffness Distal muscle weakness Pectus carinatum Joint hypermobility Dandy-Walker malformation Choreoathetosis Narrow chest Osteoporosis Abnormality of the nervous system Areflexia of lower limbs Motor delay Abnormality of the pinna Peripheral axonal neuropathy Macroglossia Brisk reflexes Postnatal microcephaly Facial hypotonia Profound global developmental delay High forehead Short upper lip Apraxia Hip dysplasia Abnormal cerebellum morphology High palate Unsteady gait Poor speech Osteopenia Undetectable visual evoked potentials



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