Hypertelorism, and Amyotrophic lateral sclerosis

Diseases related with Hypertelorism and Amyotrophic lateral sclerosis

In the following list you will find some of the most common rare diseases related to Hypertelorism and Amyotrophic lateral sclerosis that can help you solving undiagnosed cases.

Top matches:

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Is also known as herva disease|multiple contracture syndrome, finnish type|lccs|lccs1

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1

Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3|spinocerebellar atrophy iii|spinopontine atrophy|azorean neurologic disease|nigrospinodentatal degeneration|sca3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MACHADO-JOSEPH DISEASE; MJD

Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

Other less relevant matches:

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.

MACHADO-JOSEPH DISEASE TYPE 3 Is also known as sca3, machado type|spinocerebellar ataxia type 3, machado type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 3

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63

IECEE1 is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017). Genetic Heterogeneity of Infantile or Early Childhood Epileptic EncephalopathySee also IECEE2 (OMIM ), caused by mutation in the GABRB2 gene (OMIM ) on chromosome 5q34, and IECEE3 (OMIM ), caused by mutation in the ATP6V1A gene (OMIM ) on chromosome 3q13.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.

NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY Is also known as n-acyl-l-amino acid amidohydrolase deficiency|acy1d

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Top 5 symptoms//phenotypes associated to Hypertelorism and Amyotrophic lateral sclerosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Amyotrophic lateral sclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Skeletal muscle atrophy Cerebral atrophy Motor delay Feeding difficulties Inability to walk Visual impairment Delayed speech and language development Microcephaly Flexion contracture Cerebellar atrophy

Rare Symptoms - Less than 30% cases

Progressive external ophthalmoplegia Gaze-evoked nystagmus Diplopia Abnormality of extrapyramidal motor function Dilated fourth ventricle Progressive cerebellar ataxia Supranuclear ophthalmoplegia Facial-lingual fasciculations Muscle cramps Polyneuropathy Sensory neuropathy Unsteady gait Spinocerebellar tract degeneration Short stature Muscle weakness Hearing impairment Focal segmental glomerulosclerosis Glomerulosclerosis Nephrotic syndrome Brain atrophy Stage 5 chronic kidney disease Arachnodactyly Proteinuria Encephalopathy Proptosis Epileptic encephalopathy Absent speech Tapered finger Peripheral axonal neuropathy Macrotia Agenesis of corpus callosum Ventriculomegaly Wide nasal bridge Abnormal pyramidal sign Developmental regression Nystagmus Short neck Dystonia Optic atrophy Tremor Babinski sign Peripheral neuropathy Dysphagia Micrognathia Spinal muscular atrophy Akinesia Ataxia Polyhydramnios Dysarthria Ptosis Abnormality of movement Thin upper lip vermilion Generalized myoclonic seizures Abnormality of the ribs Generalized-onset seizure Delayed ability to walk Cerebral palsy Overlapping toe Webbed neck Limitation of joint mobility Talipes Delayed myelination Hypsarrhythmia Cerebral visual impairment Multifocal epileptiform discharges Multifocal seizures Recurrent fractures Epicanthus Cerebral cortical atrophy Long philtrum Abnormal form of the vertebral bodies Clumsiness Progressive peripheral neuropathy EMG: chronic denervation signs Diffuse white matter abnormalities Axonal degeneration/regeneration Limb tremor Decreased sensory nerve conduction velocity Abnormal anterior horn cell morphology Pterygium Hyperreflexia Distal muscle weakness Sleep disturbance Memory impairment EMG abnormality Midface retrusion Vestibular dysfunction Progressive gait ataxia Vocal cord paralysis Distal lower limb amyotrophy Abnormal lower motor neuron morphology Neurogenic bladder Upper motor neuron dysfunction Degeneration of anterior horn cells Abnormality of temperature regulation Substantia nigra gliosis Degeneration of the striatum Deeply set eye Mandibular prognathia Gait ataxia Pulmonary hypoplasia Inguinal hernia Cerebellar hypoplasia Polymicrogyria Diffuse mesangial sclerosis Low-set ears Macrocephaly Frontal bossing Malar flattening Obesity Pectus excavatum Clinodactyly Pectus carinatum Acute encephalopathy Finger syndactyly Hip dislocation Genu valgum Osteoarthritis Abnormality of epiphysis morphology Lymphedema Joint dislocation Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Aplasia/Hypoplasia of the cerebellar vermis Delayed CNS myelination Arthrogryposis multiplex congenita Hyperactivity Low-set, posteriorly rotated ears Peripheral demyelination Restrictive deficit on pulmonary function testing Edema Pachygyria Sensorineural hearing impairment Muscular hypotonia Vomiting Hypertonia Dilatation Abnormality of the nervous system Syringomyelia Muscular hypotonia of the trunk Intellectual disability, moderate Apnea Wide nose Generalized muscle weakness Febrile seizures Absence seizures Aplasia/Hypoplasia of the corpus callosum Hemiplegia Opisthotonus Limb hypertonia Motor polyneuropathy Partial agenesis of the corpus callosum Aqueductal stenosis Low back pain Decreased number of peripheral myelinated nerve fibers Atrophy/Degeneration affecting the brainstem Urinary bladder sphincter dysfunction Delusions Absent Achilles reflex Spastic dysarthria Tongue fasciculations Olivopontocerebellar atrophy Myokymia Chronic pain Ophthalmoparesis Torsion dystonia Hypometric saccades Restless legs Dysmetric saccades Delirium Pain Downbeat nystagmus Impaired horizontal smooth pursuit Palatal myoclonus Abnormal electrooculogram Impaired vibratory sensation Back pain Widening of cervical spinal canal Neurodegeneration Anxiety Abnormality of the eye Diabetes mellitus Leukemia Ophthalmoplegia Abnormality of eye movement Myoclonus Confusion Distal amyotrophy Dementia Postural instability External ophthalmoplegia Depressivity Abnormal cerebellum morphology Parkinsonism Gliosis Neuronal loss in central nervous system Bradykinesia Limb ataxia Hallucinations Fasciculations Truncal ataxia Abnormal autonomic nervous system physiology Paucity of anterior horn motor neurons Abnormality of the spinal cord Demyelinating peripheral neuropathy Paraparesis Abnormality of the thorax Hypoplasia of the maxilla Tetraplegia Esotropia Narrow forehead Spastic tetraplegia Psychosis Abnormality of retinal pigmentation Sensorimotor neuropathy Low anterior hairline CNS hypomyelination Long face Decreased nerve conduction velocity Hemiplegia/hemiparesis Decreased motor nerve conduction velocity 2-3 toe syndactyly Infantile spasms Rigidity Onion bulb formation Turricephaly Increased CSF protein Facial diplegia Congenital contracture Facial asymmetry Abnormality of the amniotic fluid Intellectual disability, severe Scoliosis Strabismus Hypoplasia of the musculature Amniotic constriction ring High palate Abnormal cortical bone morphology Fetal akinesia sequence Abnormality of the elbow Myopia Slender long bone Intellectual disability, mild Limb muscle weakness Short nose Areflexia Abnormality of the hip bone Brachycephaly Multiple joint contractures EEG abnormality Neonatal hypotonia Facial palsy Respiratory tract infection Craniosynostosis Abnormality of the cerebral white matter Enlarged joints


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Postaxial polydactyly, related diseases and genetic alterations Delayed speech and language development and Peripheral axonal neuropathy, related diseases and genetic alterations Tremor and Stomach cancer, related diseases and genetic alterations Low-set ears and Vomiting, related diseases and genetic alterations Failure to thrive and Tachycardia, related diseases and genetic alterations