Hypertelorism, and Focal seizures, afebril

Diseases related with Hypertelorism and Focal seizures, afebril

In the following list you will find some of the most common rare diseases related to Hypertelorism and Focal seizures, afebril that can help you solving undiagnosed cases.

Top matches:

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

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:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Other less relevant matches:

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

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:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

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-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME Is also known as pmse syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Focal seizures, afebril

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

Other less frequent symptoms

Patients with Hypertelorism and Focal seizures, afebril. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Focal-onset seizure

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Strabismus Macrocephaly Downslanted palpebral fissures Deeply set eye Cerebellar hypoplasia Wide nasal bridge Talipes equinovarus Hypoplasia of the corpus callosum Intellectual disability, severe Generalized-onset seizure Wide mouth Highly arched eyebrow Absent speech Bulbous nose Abnormal facial shape Muscular hypotonia Inability to walk Low-set ears Hearing impairment Delayed speech and language development Ventriculomegaly Intellectual disability, mild Developmental regression Spasticity Ataxia

Rare Symptoms - Less than 30% cases

Nephrocalcinosis Large forehead Atrial septal defect Congestive heart failure Myopia Hyperreflexia Peripheral neuropathy Pointed chin Failure to thrive Abnormality of the foot Polymicrogyria Cryptorchidism Mitral regurgitation Thick lower lip vermilion Focal impaired awareness seizure Facial hypotonia Tetraplegia Spastic tetraplegia Babinski sign Triangular face Dysmetria Cerebral cortical atrophy Flexion contracture High palate Micropenis Motor delay Intention tremor Heterotopia Dystonia Neonatal hypotonia Muscular hypotonia of the trunk Dysphagia Spastic paraplegia Paraplegia Optic atrophy Waddling gait Downturned corners of mouth Prominent forehead Nystagmus Edema Dysarthria Kyphosis Inguinal hernia Depressed nasal bridge Hyperactivity Anteverted nares Long face Unsteady gait Kyphoscoliosis Abnormality of the skeletal system Coarse facial features Protruding ear Positive Romberg sign Aggressive behavior Cortical dysplasia Drooling Difficulty walking Generalized myoclonic seizures Hypoplastic hippocampus Hippocampal atrophy Long philtrum Wide nose Cerebellar atrophy Tremor Focal myoclonic seizures Absent pubertal growth spurt Abnormality of the musculature of the lower limbs Delayed peripheral myelination Exophoria Segmental myoclonic seizures Structural foot deformity Short ear Nonprogressive cerebellar ataxia Mesiodens Gastroesophageal reflux Broad nasal tip Broad forehead Memory impairment Abnormal pyramidal sign Autistic behavior Depressed nasal ridge Infantile muscular hypotonia Brisk reflexes Constipation Palpebral edema Abnormal cortical gyration Narrow mouth Impaired social interactions Abnormal social behavior Poor motor coordination Gait ataxia Narrow nasal tip Postural tremor Confusion Syndactyly Entropion High forehead Polyhydramnios Feeding difficulties Narrow naris Wide nasal base Cavum septum pellucidum Disproportionate tall stature Abnormal cardiac septum morphology Bundle branch block Right bundle branch block Mask-like facies Cutis laxa Narrow palpebral fissure Sloping forehead Joint laxity Leukemia Gliosis Decreased muscle mass Hyperplasia of midface Minimal subcutaneous fat Multifocal epileptiform discharges Astrocytosis Thick upper lip vermilion Megalencephaly Diabetes insipidus Severe global developmental delay Tented upper lip vermilion Shock Increased body weight Narrow face Open mouth Status epilepticus Premature birth Convex nasal ridge Sepsis Dilatation Intestinal malrotation Patent foramen ovale Bicuspid aortic valve Aortic regurgitation Lissencephaly Myocardial infarction Nephrotic syndrome Joint hypermobility Abnormality of the coagulation cascade Cerebral white matter atrophy Stroke Skeletal dysplasia Agenesis of corpus callosum Patent ductus arteriosus Encephalopathy Recurrent infections Aortic aneurysm Abnormality of neuronal migration Blepharophimosis Cardiomyopathy Camptodactyly Hypertrophic cardiomyopathy Retrognathia Macrotia Pneumonia Hernia Ventricular septal defect Emphysema Cataract Subependymal nodules Congenital nephrotic syndrome Dyslexia Widow's peak Enlarged cisterna magna Shawl scrotum Puberty and gonadal disorders Plagiocephaly Overweight Insomnia Recurrent otitis media Abnormality of the face Thickened skin Progressive hearing impairment Tachypnea Increased intracranial pressure Recurrent upper respiratory tract infections Heart murmur Pericardial effusion Protruding tongue Distal arthrogryposis Protuberant abdomen Abnormality of the skull Mitral valve prolapse Edema of the lower limbs Beaking of vertebral bodies Communicating hydrocephalus Increased mean corpuscular volume Thoracolumbar kyphosis Inspiratory stridor Hypochromic anemia Hyperplasia of the maxilla Abnormality of the optic disc J-shaped sella turcica Obstructive lung disease Morphological abnormality of the central nervous system Pulmonary arterial hypertension Abnormality of the cardiovascular system Urinary glycosaminoglycan excretion Leukodystrophy Spastic dysarthria Upper motor neuron dysfunction Abnormality of the basal ganglia Vertical supranuclear gaze palsy Abnormality of ocular smooth pursuit Autonomic bladder dysfunction Impaired distal proprioception High myoinositol in brain by MRS CNS hypomyelination Oligodontia Hypogonadotrophic hypogonadism Hepatomegaly Frontal bossing Cyanosis Short neck Behavioral abnormality Proptosis Mandibular prognathia Dyspnea Umbilical hernia Hepatosplenomegaly Postnatal growth retardation Joint stiffness Tachycardia Ascites Macroglossia Limitation of joint mobility Heparan sulfate excretion in urine Anisopoikilocytosis Progressive spastic paraplegia Scoliosis Gait disturbance Hyporeflexia Brachycephaly Peripheral axonal neuropathy Small hand Everted lower lip vermilion Pachygyria Short toe Impaired vibration sensation in the lower limbs Hypoplasia of the brainstem Toe walking Broad palm Sensorineural hearing impairment Loss of ability to walk Cerebral atrophy Obesity Hip dislocation Generalized tonic-clonic seizures Retinal dystrophy Delayed myelination Urinary incontinence Lumbar hyperlordosis Tetraparesis Broad-based gait Lower limb spasticity Fasciculations Simple febrile seizures Spastic diplegia Short digit Smooth philtrum Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Intervertebral space narrowing Dysplastic aortic valve Localized skin lesion Abnormality of nasopharyngeal adenoids Clumsiness Hypodontia Delayed eruption of teeth Thin upper lip vermilion Anxiety Intellectual disability, moderate Thin vermilion border Cerebral palsy Delayed puberty Obsessive-compulsive behavior Unilateral renal agenesis Hyperparathyroidism Obsessive-compulsive trait Hydrocephalus Hypertonia Apnea Short philtrum Talipes Thick vermilion border Prominent nose Febrile seizures Hypovolemic shock


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Depressed nasal ridge, related diseases and genetic alterations Edema and Wide nasal bridge, related diseases and genetic alterations Epicanthus and Rigidity, related diseases and genetic alterations Low-set ears and Dilated cardiomyopathy, related diseases and genetic alterations Micrognathia and Postaxial polydactyly, related diseases and genetic alterations Sensorineural hearing impairment and Hematuria, related diseases and genetic alterations