Low-set ears, and Generalized seizures

Diseases related with Low-set ears and Generalized seizures

In the following list you will find some of the most common rare diseases related to Low-set ears and Generalized seizures that can help you solving undiagnosed cases.


Top matches:

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as ceroid lipofuscinosis, neuronal, cathepsin d-deficient, neuronal ceroid lipofuscinosis due to cathepsin d deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Microcephaly
  • Ataxia
  • Myopathy


SOURCES: ORPHANET OMIM

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Medium match ADENYLOSUCCINASE DEFICIENCY; ADSLD

Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. ADSL deficiency leads to the accumulation of toxic intermediates, including succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr) in body fluids. There are 3 major phenotypic forms of the disorder that correlate with different values of the S-Ado and SAICAr concentration ratios (S-Ado/SAICAr) in the cerebrospinal fluid. These include the most severe fatal neonatal encephalopathy (S-Ado/SAICAr ratio less than 1); childhood form (type I) with severe psychomotor retardation (S-Ado/SAICAr ratio close to 1), and a milder form (type II) with psychomotor retardation or hypotonia (S-Ado/SAICAr ratio greater than 2) (summary by Baresova et al., 2012).

ADENYLOSUCCINASE DEFICIENCY; ADSLD Is also known as adenylosuccinate lyase deficiency, adsl deficiency;adsl deficiency; adenylosuccinase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: DOID UMLS MESH GARD ORPHANET SCTID OMIM MONDO

More info about ADENYLOSUCCINASE DEFICIENCY; ADSLD

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH MONDO OMIM DOID UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

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Other less relevant matches:

Medium match HERMANSKY-PUDLAK SYNDROME 10; HPS10

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MONDO UMLS

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

Medium match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM UMLS MONDO

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 Is also known as mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID OMIM MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

Medium match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM UMLS MONDO

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID MONDO NCIT MESH UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Medium match PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY

Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (OMIM ), caused by mutation in the HSD17B4 gene (OMIM ) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (see {601539}) (Watkins et al., 1995).

PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY Is also known as straight-chain acyl-coa oxidase deficiency, pseudoneonatal adrenoleukodystrophy;pseudo-nald; pseudo-neonatal adrenoleukodystrophy; pseudoadrenoleukodystrophy

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: UMLS DOID SCTID MESH MONDO OMIM GARD ORPHANET

More info about PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY

Medium match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as mopd types i and iii; microcephalic osteodysplastic primordial dwarfism, taybi-linder type; primordial microcephalic dwarfism, crachami type; taybi-linder syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: ORPHANET

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Top 5 symptoms//phenotypes associated to Low-set ears and Generalized seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

Patients with Low-set ears and Generalized seizures. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Thin upper lip vermilion Motor delay Strabismus Intellectual disability, severe Spasticity Epicanthus EEG abnormality Nystagmus Abnormal facial shape Absence seizures Delayed speech and language development Anteverted nares Retrognathia Dystonia Short nose Hypoplasia of the corpus callosum Cerebral atrophy Autosomal dominant inheritance Absent speech Pica Failure to thrive Hypertelorism Micrognathia Smooth philtrum Myoclonus Prominent nose Growth delay Autism Depressed nasal bridge Brachycephaly Infantile onset Ptosis Brachydactyly Wide nasal bridge Downturned corners of mouth Severe global developmental delay Highly arched eyebrow Bulbous nose Osteopenia Respiratory failure Frontal bossing Short stature Tented upper lip vermilion Ataxia Open mouth Muscular hypotonia of the trunk Protruding ear Broad forehead Encephalopathy Downslanted palpebral fissures Short philtrum

Rare Symptoms - Less than 30% cases


Prominent forehead Widely spaced teeth Long nose Hepatomegaly Macrotia Neurological speech impairment Bifid uvula Brain atrophy Generalized myoclonic seizures Everted lower lip vermilion Sleep disturbance Small hand Posteriorly rotated ears Short neck Intrauterine growth retardation Short chin Plagiocephaly Epileptic encephalopathy Febrile seizures Short foot Thick eyebrow Scoliosis Autistic behavior Hearing impairment Esotropia Hypertonia Attention deficit hyperactivity disorder Joint laxity Clinodactyly Short palm Behavioral abnormality Dysphagia Clinodactyly of the 5th finger Constipation Myopia Cryptorchidism Long philtrum Developmental regression Ranula Wide mouth Rigidity Death in infancy Sloping forehead Aggressive behavior Inability to walk Hyperactivity Status epilepticus Gait ataxia Abnormality of metabolism/homeostasis Cerebellar atrophy Respiratory insufficiency Postnatal microcephaly Poor eye contact Happy demeanor Short attention span Epileptic spasms Cleft palate Prominent metopic ridge Intellectual disability, progressive Abnormality of the upper urinary tract Optic atrophy Thickened nuchal skin fold Hemifacial hypoplasia Aplastic clavicle Self-injurious behavior Muscular hypotonia Hyperreflexia Abnormality of lower lip Broad distal phalanx of finger Polyphagia Abnormality of finger Infantile muscular hypotonia Sensorineural hearing impairment Thin eyebrow Sandal gap Cupped ear Large iliac wings Fever Vomiting Abnormality of the tragus Coarse facial features Gastroesophageal reflux Feeding difficulties in infancy Postnatal growth retardation Microtia Facial asymmetry Abnormality of the pubic bone Loss of eyelashes Hypermetropia Language impairment Astigmatism Abnormality of the distal phalanx of finger Focal seizures Aplasia/hypoplasia of the femur Dental crowding Abnormality of calcium-phosphate metabolism Abnormality of the intervertebral disk Abnormally ossified vertebrae Low anterior hairline Submucous cleft hard palate Finger clinodactyly Focal seizures with impairment of consciousness or awareness Osteomalacia Neonatal hypotonia Prominent occiput Delayed skeletal maturation Decreased light- and dark-adapted electroretinogram amplitude Hypotrichosis CNS demyelination Abnormality of nervous system morphology Diffuse hepatic steatosis No social interaction Abnormal form of the vertebral bodies Abnormality of the skeletal system Abnormality of the metaphysis Malar flattening Specific learning disability Premature birth Functional respiratory abnormality Alopecia Thick vermilion border Visual impairment Glaucoma Severe short stature Proptosis Abnormality of the kidney Micromelia Hydronephrosis Dolichocephaly Dyspnea Tapetoretinal degeneration Inverted nipples Gait disturbance Irritability Rickets Blindness Babinski sign Elevated hepatic transaminase Polydactyly Retinopathy Muscle stiffness Hydroureter Large hands Abnormality of the urinary system Abnormality of the metacarpal bones Retinal degeneration Abnormality of visual evoked potentials Abnormality of the cerebral white matter Hypodontia Tetraplegia Spontaneous abortion Bilateral sensorineural hearing impairment Pigmentary retinopathy Spastic tetraplegia Peripheral demyelination Leukodystrophy Abnormal electroretinogram Hand polydactyly Bilateral single transverse palmar creases Osteoporosis Protruding tongue Appendicular hypotonia Abnormality of the pinna Flat occiput Brisk reflexes Opisthotonus Cerebellar vermis atrophy Self-mutilation Cerebral hypomyelination Inappropriate laughter Hypointensity of cerebral white matter on MRI Agenesis of corpus callosum Telecanthus Small for gestational age Hypsarrhythmia Thin vermilion border Wide nose Round face Short palpebral fissure Microretrognathia Partial agenesis of the corpus callosum Bruxism Prominent nasal tip Long upper lip Splenomegaly Pneumonia CNS hypomyelination Apraxia Immunodeficiency Peripheral axonal neuropathy Myopathy Peripheral neuropathy Tremor Cardiomyopathy Respiratory distress Congenital onset Rod-cone dystrophy Visual loss Mental deterioration Apnea Gliosis Arrhythmia Neuronal loss in central nervous system Cyanosis Bradycardia Retinal atrophy Sensory axonal neuropathy Loss of speech Central apnea Increased neuronal autofluorescent lipopigment Premature closure of fontanelles Milia Skeletal muscle atrophy Recurrent respiratory infections Recurrent infections Profound static encephalopathy Tapered finger Heterotopia Infantile spasms Abnormality of the periventricular white matter Large earlobe Periventricular leukomalacia Abnormal corpus callosum morphology Hemiclonic seizures Periventricular white matter hyperdensities High forehead Prominent nasal bridge Triangular face Iris coloboma Dyskinesia Athetosis Intellectual disability, profound Choreoathetosis Cachexia Failure to thrive in infancy Global brain atrophy Hip contracture Facial hypotonia Profound global developmental delay Generalized tonic seizures Convex nasal ridge Coloboma Hepatosplenomegaly Ocular albinism Abnormality of the nervous system Neutropenia Delayed myelination Abnormal bleeding Hypotelorism Generalized tonic-clonic seizures Albinism Interstitial pulmonary abnormality Arachnoid cyst Pierre-Robin sequence High palate Sporadic Synophrys Joint hypermobility Decreased antibody level in blood Pachygyria Cortical gyral simplification IgA deficiency Atonic seizures IgG deficiency Ventriculomegaly Dilatation Upslanted palpebral fissure Bifid femur


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