Hypertelorism, and Generalized seizures
Diseases related with Hypertelorism and Generalized seizures
In the following list you will find some of the most common rare diseases related to Hypertelorism and Generalized seizures that can help you solving undiagnosed cases.
Top matches:
Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF
Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF
Medium 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
- Hypertelorism
SOURCES: OMIM
More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15Medium match AMINOACYLASE 1 DEFICIENCY; ACY1D
Aminoacylase-1 deficiency (ACY1D) is a rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of specific N-actyl amino acids. Most patients show neurologic abnormalities such as intellectual disability, seizures, hypotonia, and motor delay (summary by Ferri et al., 2014).
AMINOACYLASE 1 DEFICIENCY; ACY1D Is also known as ;acy1d; n-acyl-l-amino acid amidohydrolase deficiency
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES: EFO SCTID UMLS MESH GARD MONDO OMIM ORPHANET
More info about AMINOACYLASE 1 DEFICIENCY; ACY1DToo many results?
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Other less relevant matches:
Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4
Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4 Is also known as glycosylphosphatidylinositol biosynthesis defect 10;gpibd10
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4
Medium match SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS
Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS Is also known as ;spprs syndrome; spastic paraplegia-psychomotor retardation-seizures syndrome
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES: MONDO OMIM ORPHANET UMLS
More info about SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRSMedium match INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.
INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency
Related symptoms:
- Seizures
- Global developmental delay
- Microcephaly
- Hypertelorism
- Muscular hypotonia
SOURCES: ORPHANET
More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROMEMedium match KENNY-CAFFEY SYNDROME, TYPE 1; KCS1
An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.
KENNY-CAFFEY SYNDROME, TYPE 1; KCS1 Is also known as kcs, kenny-caffey syndrome, autosomal recessive;
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Global developmental delay
- Microcephaly
- Hypertelorism
SOURCES: MESH OMIM MONDO NCIT GARD UMLS ORPHANET
More info about KENNY-CAFFEY SYNDROME, TYPE 1; KCS1Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13
MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13
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; MRD22Medium match DIABETES MELLITUS, TRANSIENT NEONATAL, 1
Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features.
DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1, tndm, dmtn;tndm
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Hypertelorism
SOURCES: SCTID MESH MONDO OMIM UMLS ORPHANET
More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1Top 5 symptoms//phenotypes associated to Hypertelorism and Generalized seizures
Symptoms // Phenotype | % cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Global developmental delay | Very Common - Between 80% and 100% cases |
Intellectual disability | Common - Between 50% and 80% cases |
Generalized hypotonia | Common - Between 50% and 80% cases |
Microcephaly | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Hypertelorism and Generalized seizures. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Autosomal recessive inheritance Downturned corners of mouth Hypoplasia of the corpus callosum Muscular hypotonia Delayed speech and language development Generalized myoclonic seizures Abnormal facial shape Inability to walk Motor delay Wide nasal bridge Growth delay Thin upper lip vermilion Spasticity Muscular hypotonia of the trunk Hearing impairment Short stature Prominent forehead Intellectual disability, severe Talipes equinovarus
Rare Symptoms - Less than 30% cases
Depressed nasal bridge Bruxism Small hand Intrauterine growth retardation Smooth philtrum Absence seizures Small for gestational age Cleft palate Autosomal dominant inheritance Intellectual disability, moderate Short nose Long philtrum Absent speech Failure to thrive Cerebellar hypoplasia Round face Scoliosis Abnormality of the pinna Macrocephaly Cerebral atrophy Dystonia Obesity Abnormality of the foot Downslanted palpebral fissures Waddling gait Epicanthus Brachycephaly Prominent metopic ridge Full cheeks Focal seizures Thin vermilion border Highly arched eyebrow Myopia Apraxia Sensorineural hearing impairment Cerebellar atrophy Narrow forehead Dysarthria Ataxia Neurodevelopmental delay Abnormality of the upper urinary tract Polymicrogyria Peripheral axonal neuropathy Renal tubular dysfunction Diabetes mellitus Severe intrauterine growth retardation Everted lower lip vermilion Kyphoscoliosis Tetraplegia Spastic tetraplegia Pachygyria Heterotopia Short toe Plagiocephaly Wide mouth Gait disturbance Hyporeflexia Thin clavicles Delayed closure of the anterior fontanelle Tetany Generalized tonic seizures Long clavicles Hypocalcemic seizures Birth length less than 3rd percentile Abdominal wall defect Hypocalcemic tetany Congenital hypoparathyroidism Dysphagia Cortical thickening of long bone diaphyses Thin long bone diaphyses Calvarial osteosclerosis Premature atrial contractions Stenosis of the medullary cavity of the long bones Hypovolemia Peripheral neuropathy Ventriculomegaly Hypoplasia of the brainstem Ketonuria Severe failure to thrive Microretrognathia Neurological speech impairment Macroglossia Decreased skull ossification Abnormality of the pancreatic islet cells Arthrogryposis multiplex congenita Wide nose Bifid uvula Short palpebral fissure Widely spaced teeth Generalized tonic-clonic seizures Weight loss Abnormal heart morphology Long nose Partial agenesis of the corpus callosum Contractures of the joints of the lower limbs Prominent nasal tip Long upper lip Edema Type II diabetes mellitus Short philtrum Toe walking Bilateral ptosis Cortical dysplasia Coma Steatorrhea Broad palm Pica Glycosuria Micrognathia Hyperglycemia Glucose intolerance Transient neonatal diabetes mellitus Overgrowth Cryptorchidism Low-set ears Feeding difficulties Agenesis of corpus callosum Retrognathia Telecanthus Dehydration Protruding ear Hypomagnesemia Cerebral cortical atrophy Severe postnatal growth retardation Hyperactivity Status epilepticus Brisk reflexes Dysmetric saccades Muscle weakness Hypertonia Vomiting Encephalopathy Dilatation Apnea Hip dysplasia Febrile seizures Hemiplegia Opisthotonus Syringomyelia Limb hypertonia Delayed CNS myelination Acute encephalopathy Infantile onset Cortical visual impairment Abnormal cerebellum morphology Broad nasal tip Cognitive impairment Anxiety Triangular face Nephrocalcinosis Calcinosis Unilateral renal agenesis Hyperparathyroidism Obsessive-compulsive trait Nystagmus Visual impairment Poor speech Optic atrophy Anteverted nares Tremor Osteoporosis Gait ataxia Osteopenia Unsteady gait Dysmetria Upslanted palpebral fissure Postnatal microcephaly Proportionate short stature Postnatal growth retardation Congenital stationary night blindness Horizontal eyebrow Abnormality of brain morphology Large fleshy ears Multifocal cerebral white matter abnormalities Anemia Delayed skeletal maturation Oxycephaly Carious teeth Congenital hypothyroidism Short palm Short foot Recurrent bacterial infections Hypocalcemia Delayed cranial suture closure Hypoparathyroidism Slender long bone Thin ribs Malignant hyperthermia Underdeveloped supraorbital ridges Elevated alkaline phosphatase Developmental regression Mutism Involuntary movements Tented upper lip vermilion Large earlobe Shortening of all distal phalanges of the fingers Strabismus Abnormality of the skeletal system Kyphosis Hip dislocation Tapered finger Retinal dystrophy Delayed myelination Lumbar hyperlordosis Tetraparesis Lower limb spasticity Broad-based gait Overweight Clinodactyly of the 5th finger Synophrys Hypoinsulinemia
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