Macrocephaly, and Generalized seizures

Diseases related with Macrocephaly and Generalized seizures

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


Top matches:

Medium match PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: UMLS MONDO ORPHANET OMIM SCTID DOID

More info about PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD

Low match N-ACETYLASPARTATE DEFICIENCY; NACED

N-ACETYLASPARTATE DEFICIENCY; NACED Is also known as naa deficiency, hypoacetylaspartia

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO OMIM UMLS

More info about N-ACETYLASPARTATE DEFICIENCY; NACED

Low match LISSENCEPHALY 5; LIS5

Lissencephaly-5 is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development (summary by Radmanesh et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

LISSENCEPHALY 5; LIS5 Is also known as ;cobblestone lissencephaly without muscular or eye involvement; lissencephaly type 2 without muscular or eye involvement; lissencephaly type 2 without muscular or ocular involvement

Related symptoms:

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


SOURCES: OMIM UMLS ORPHANET MONDO

More info about LISSENCEPHALY 5; LIS5

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Other less relevant matches:

Low 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; SPPRS

Low 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; KCS1

Low match CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR

Nonprogressive cerebellar ataxia with mental retardation is an autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable (summary by Thevenon et al., 2012).

CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR Is also known as ;

Related symptoms:

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


SOURCES: MONDO DOID UMLS OMIM ORPHANET

More info about CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

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

Low match SECKEL SYNDROME 6; SCKL6

Related symptoms:

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


SOURCES: UMLS DOID OMIM MONDO

More info about SECKEL SYNDROME 6; SCKL6

Low match CANAVAN DISEASE

CANAVAN DISEASE Is also known as canavan-van bogaert-bertrand disease, spongy degeneration of central nervous system, aspartoacylase deficiency, aspa deficiency, asp deficiency, aminoacylase 2 deficiency, acy2 deficiency

Related symptoms:

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


SOURCES: UMLS ORPHANET SCTID OMIM

More info about CANAVAN DISEASE

Low match D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1

D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Mild and severe phenotypes were characterized (van der Knaap et al., 1999). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation. Genetic Heterogeneity of D-2-Hydroxyglutaric AciduriaD-2-hydroxyglutaric aciduria-2 (D2HGA2 ) is caused by heterozygous mutation in the mitochondrial isocitrate dehydrogenase-2 gene (IDH2 ) on chromosome 15q26.

D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1 Is also known as d2hga;d-2-hga; d-2-hydroxyglutaric acidemia

Related symptoms:

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


SOURCES: OMIM ORPHANET MONDO UMLS

More info about D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1

Top 5 symptoms//phenotypes associated to Macrocephaly and Generalized seizures

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

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Other less frequent symptoms

Patients with Macrocephaly and Generalized seizures. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Oxycephaly Motor delay Cerebral atrophy Ataxia Visual impairment Developmental regression Hearing impairment Strabismus Short stature Absence seizures Delayed speech and language development Muscular hypotonia

Rare Symptoms - Less than 30% cases


Dysarthria Generalized myoclonic seizures Inability to walk Delayed closure of the anterior fontanelle Generalized tonic seizures Autosomal dominant inheritance Abnormal facial shape Focal seizures with impairment of consciousness or awareness Anteverted nares Aciduria Epileptic encephalopathy Arrhythmia Behavioral abnormality Hypertelorism Encephalopathy Blindness Cortical visual impairment Hypsarrhythmia Gait ataxia Cerebral cortical atrophy Optic atrophy Postnatal growth retardation Hypertonia Cerebellar hypoplasia Growth delay Unsteady gait Intrauterine growth retardation Brain atrophy Hyperreflexia Babinski sign Nevus Flexion contracture Cognitive impairment Nystagmus Gastroesophageal reflux Obtundation status Polymicrogyria EEG abnormality Abnormal palmar dermatoglyphics Peripheral demyelination Abnormality of retinal pigmentation Leukodystrophy Cerebral palsy Aspiration Opisthotonus Megalencephaly Abnormality of visual evoked potentials Feeding difficulties in infancy Self-injurious behavior Small earlobe Absent speech Nonprogressive cerebellar ataxia Abnormal social behavior Mesiodens Short ear Hypoplastic hippocampus Segmental myoclonic seizures Pica Truncal ataxia Inguinal hernia Clinodactyly Epileptic spasms Difficulty walking Dental crowding Gingival overgrowth Overgrowth Sandal gap Short finger Flat occiput Infantile onset Global brain atrophy Cystinuria Reduced consciousness/confusion CNS demyelination Abnormal cortical gyration Dilation of lateral ventricles Lethargy Flat face Broad nasal tip Focal seizures Aortic regurgitation Involuntary movements Shock Stridor Increased CSF protein Turricephaly Delayed CNS myelination Irritability Periventricular leukomalacia Episodic vomiting Anteverted ears Glutaric aciduria Inspiratory stridor Infantile encephalopathy Narrow naris Cardiogenic shock Enchondroma Subependymal cysts D-2-hydroxyglutaric aciduria Dolichocephaly Apnea Vegetative state Cardiomyopathy Homocystinuria Decerebrate rigidity Aplasia/Hypoplasia involving the central nervous system Micrognathia Muscle weakness Myopathy Feeding difficulties Wide nasal bridge Frontal bossing Ventriculomegaly Respiratory insufficiency Skeletal dysplasia Malar flattening Vomiting Respiratory distress Brachycephaly Myoclonus Prominent forehead Abnormality of the genital system Mandibular prognathia Coarse facial features Hyperactivity Protruding ear Large forehead Brisk reflexes Palpebral edema Downturned corners of mouth Talipes equinovarus Hypoplasia of the corpus callosum Abnormality of the skeletal system Kyphosis Dystonia Obesity Muscular hypotonia of the trunk Progressive Hip dislocation Abnormality of the foot Retinal dystrophy Mental deterioration Delayed myelination Waddling gait Lumbar hyperlordosis Tetraparesis Coma Lower limb spasticity Broad-based gait Overweight Anemia Delayed skeletal maturation Myopia Severe global developmental delay Short palm Hypoplasia of the brainstem Abnormal cerebellum morphology Tetraplegia Neurodegeneration Spastic tetraplegia Encephalocele Progressive neurologic deterioration Heterotopia Leukoencephalopathy Lissencephaly Hemiplegia Cephalocele Spasticity Occipital encephalocele Infantile spasms Porencephalic cyst Type II lissencephaly Gray matter heterotopias Right hemiplegia Scoliosis Abnormality of the cerebral white matter Spastic paraplegia Sensorineural hearing impairment Muscular dystrophy Carious teeth Short foot Paraplegia Abnormal pyramidal sign Tremor Cerebellar atrophy Intellectual disability, mild Long philtrum Stereotypy Constipation Narrow mouth Decreased body weight Aggressive behavior Neonatal hypotonia Deeply set eye Short attention span Autistic behavior Bulbous nose Long face Dysmetria Wide nose Thick lower lip vermilion Memory impairment Intention tremor Depressed nasal ridge Pointed chin Infantile muscular hypotonia Edema Cataract Small hand Hypomagnesemia Full cheeks Recurrent bacterial infections Hypocalcemia Delayed cranial suture closure Hypoparathyroidism Slender long bone Thin ribs Proportionate short stature Severe postnatal growth retardation Decreased skull ossification Hydrocephalus Stenosis of the medullary cavity of the long bones Tetany Gait disturbance Long clavicles Hypocalcemic seizures Birth length less than 3rd percentile Hypocalcemic tetany Thin clavicles Congenital hypoparathyroidism Cortical thickening of long bone diaphyses Thin long bone diaphyses Calvarial osteosclerosis Multifocal cerebral white matter abnormalities


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