Macrocephaly, and Focal seizures, afebril

Diseases related with Macrocephaly and Focal seizures, afebril

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


Top matches:

High match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


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

Low match SECKEL SYNDROME 6; SCKL6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

Low match X-LINKED EPILEPSY-LEARNING DISABILITIES-BEHAVIOR DISORDERS SYNDROME


X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).

Related symptoms:

  • Seizures
  • Macrocephaly
  • Behavioral abnormality
  • Autism
  • Aggressive behavior


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED EPILEPSY-LEARNING DISABILITIES-BEHAVIOR DISORDERS SYNDROME

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Other less relevant matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Low match LENNOX-GASTAUT SYNDROME


Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Low match SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME


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

Low match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


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

Low match D-2-HYDROXYGLUTARIC ACIDURIA


D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hyperactivity Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality Focal-onset seizure Strabismus Deeply set eye Generalized myoclonic seizures Cerebral atrophy Aggressive behavior Delayed speech and language development Frontal bossing Short stature Epileptic encephalopathy Developmental regression Encephalopathy Gait ataxia Long face Cerebral cortical atrophy Focal impaired awareness seizure Gastroesophageal reflux Microcephaly Tremor Low-set ears Muscular hypotonia Ataxia Autistic behavior Abnormal facial shape Mandibular prognathia Prominent forehead Anteverted nares

Rare Symptoms - Less than 30% cases


Poor speech Motor delay Autism Hypertelorism Intention tremor Neurological speech impairment Broad forehead Broad nasal tip Dysmetria Cognitive impairment Protruding ear Delayed myelination Cerebellar hypoplasia Visual impairment Generalized tonic-clonic seizures Ventriculomegaly Spasticity Nystagmus Generalized tonic seizures Enlarged cisterna magna Dysarthria Unsteady gait Myoclonus Neonatal hypotonia Hypoplasia of the corpus callosum Downslanted palpebral fissures Cerebral visual impairment Gingival overgrowth Hypsarrhythmia Inability to walk Difficulty walking Intellectual disability, severe Feeding difficulties Inspiratory stridor Hearing impairment Coarse facial features Depressed nasal bridge Kyphosis Abnormality of the skeletal system Edema Impaired social interactions Periventricular leukomalacia Delayed CNS myelination Dilation of lateral ventricles Retinal dystrophy Downturned corners of mouth Urinary incontinence Waddling gait Increased CSF protein Tetraparesis Lumbar hyperlordosis Paraplegia Broad-based gait Turricephaly Lower limb spasticity Fasciculations Progressive spastic paraplegia Stridor Shock Overweight Aortic regurgitation Cerebral white matter atrophy Episodic vomiting Obesity Abnormality of the foot Sensorineural hearing impairment Poor eye contact Microphallus Abnormality of the philtrum Retrocerebellar cyst Infra-orbital crease Disorganization of the anterior cerebellar vermis Scoliosis D-2-hydroxyglutaric aciduria Subependymal cysts Myopia Spastic paraplegia Cardiogenic shock Talipes equinovarus Glutaric aciduria Dystonia Infantile encephalopathy Anteverted ears Narrow naris Structural foot deformity Muscular hypotonia of the trunk Hip dislocation Puberty and gonadal disorders Exophoria Abnormal cortical gyration Narrow nasal tip Bulbous nose Muscle weakness Micrognathia Segmental myoclonic seizures External genital hypoplasia Hypoplastic hippocampus Hippocampal atrophy Wide nose Short ear Mesiodens Poor motor coordination Wide nasal bridge Abnormal social behavior Nonprogressive cerebellar ataxia Positive Romberg sign Memory impairment Thick lower lip vermilion Depressed nasal ridge Pointed chin Infantile muscular hypotonia Brisk reflexes Palpebral edema Large forehead Abnormal pyramidal sign Respiratory insufficiency Delayed peripheral myelination Lethargy Abnormality of the musculature of the lower limbs Absent pubertal growth spurt Focal myoclonic seizures Severe muscular hypotonia High palate Absence seizures Involuntary movements Cerebellar atrophy Aciduria Intellectual disability, mild Flat face Dolichocephaly Respiratory distress Irritability Long philtrum Apnea Constipation Skeletal dysplasia Brachycephaly Narrow mouth Malar flattening Vomiting Blindness Cardiomyopathy Long nose Abnormality of the periventricular white matter Prominent supraorbital ridges Thoracolumbar kyphosis Pericardial effusion Protruding tongue Distal arthrogryposis Protuberant abdomen Insomnia Abnormality of the skull Edema of the lower limbs Beaking of vertebral bodies Communicating hydrocephalus Increased mean corpuscular volume Hypochromic anemia Recurrent upper respiratory tract infections Hyperplasia of the maxilla Abnormality of the optic disc J-shaped sella turcica Obstructive lung disease Morphological abnormality of the central nervous system Heparan sulfate excretion in urine Urinary glycosaminoglycan excretion Anisopoikilocytosis Short digit Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Heart murmur Increased intracranial pressure Tachycardia Hepatomegaly Optic atrophy Short neck Inguinal hernia Proptosis Dyspnea Kyphoscoliosis Umbilical hernia Hepatosplenomegaly Postnatal growth retardation Joint stiffness Ascites Tachypnea Macroglossia Limitation of joint mobility Cyanosis Abnormality of the cardiovascular system Mitral valve prolapse Pulmonary arterial hypertension Recurrent otitis media Mitral regurgitation Abnormality of the face Thickened skin Progressive hearing impairment Intervertebral space narrowing Dysplastic aortic valve Scrotal hypoplasia Cryptorchidism Intellectual disability, progressive Tented upper lip vermilion Relative macrocephaly Atonic seizures Abnormality of brainstem morphology Personality disorder Atypical absence seizures Frontotemporal cerebral atrophy CNS infection EEG with focal sharp slow waves Dilatation Mental deterioration Micropenis Macrotia Thin upper lip vermilion Intellectual disability, moderate Attention deficit hyperactivity disorder Short philtrum Abnormal cerebellum morphology Triangular face Prominent nose Hypotelorism Cerebellar vermis hypoplasia Falls EEG abnormality Localized skin lesion Sandal gap Abnormality of nasopharyngeal adenoids Specific learning disability Failure to thrive Hyperlordosis Microtia Delayed gross motor development Postnatal macrocephaly Absent speech Clinodactyly Overgrowth Dental crowding Self-injurious behavior High forehead Flat occiput Global brain atrophy Epileptic spasms Small earlobe Abnormal palmar dermatoglyphics Obtundation status Ptosis Dysphagia Abnormality of the dentition Recurrent respiratory infections Posteriorly rotated ears Multifocal cerebral white matter abnormalities



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