Frontal bossing, and Encephalopathy

Diseases related with Frontal bossing and Encephalopathy

In the following list you will find some of the most common rare diseases related to Frontal bossing and Encephalopathy that can help you solving undiagnosed cases.

Top matches:

NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B Is also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b|mocod type b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B

Other less relevant matches:

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

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

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:

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


SOURCES: OMIM MENDELIAN

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

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

Medium match ALG9-CDG

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

Top 5 symptoms//phenotypes associated to Frontal bossing and Encephalopathy

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

Other less frequent symptoms

Patients with Frontal bossing and Encephalopathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Cerebral atrophy Abnormal facial shape Spastic tetraplegia Ventriculomegaly Severe muscular hypotonia Epileptic encephalopathy Muscular hypotonia Cerebral cortical atrophy Strabismus Dystonia Prominent forehead Global brain atrophy Choreoathetosis Visual impairment Ataxia Brain atrophy Irritability Long philtrum Short nose Feeding difficulties Nystagmus Tetraplegia Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Brachycephaly Absent speech Hyperreflexia Optic atrophy Hyperactivity Anteverted nares

Rare Symptoms - Less than 30% cases

Coarse facial features Wide nasal bridge Coma Lethargy Inability to walk Failure to thrive Low-set ears Unsteady gait Central hypotonia Constipation Cognitive impairment Paralysis Ptosis Epicanthus Peripheral neuropathy Hepatomegaly Dysarthria Poor speech Vomiting Involuntary movements Tetraparesis Gliosis Mental deterioration Growth delay Short philtrum Severe global developmental delay Sensorimotor neuropathy Prominent nose Areflexia Delayed CNS myelination Intellectual disability, severe Open mouth Cerebellar atrophy Micrognathia Generalized tonic seizures Hypertelorism Esotropia Skeletal dysplasia Myoclonus Macrocephaly Smooth philtrum Plagiocephaly Triangular face Tapered finger Broad forehead Small hand Bulbous nose Dyskinesia Intellectual disability, profound Tented upper lip vermilion Infantile muscular hypotonia Sleep disturbance Multifocal cerebral white matter abnormalities Prominent nasal bridge Narrow naris Cerebral visual impairment Absence seizures Aortic regurgitation Shock Focal impaired awareness seizure Stridor Turricephaly Increased CSF protein Dilation of lateral ventricles Periventricular leukomalacia Episodic vomiting Inspiratory stridor Cachexia Joint laxity Infantile encephalopathy Glutaric aciduria Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Scoliosis Intrauterine growth retardation Downslanted palpebral fissures Short neck Posteriorly rotated ears High forehead Osteopenia Thin upper lip vermilion Anteverted ears Abnormality of extrapyramidal motor function Failure to thrive in infancy Wide mouth Degeneration of the lateral corticospinal tracts EMG: chronic denervation signs Spinal deformities Cerebellar cortical atrophy Autoamputation Autoamputation of digits Hypothalamic hypothyroidism Cerebellar gliosis Depressed nasal bridge Edema Atrial septal defect Kyphosis Delayed skeletal maturation Hepatosplenomegaly Abnormal cardiac septum morphology Morphological abnormality of the pyramidal tract Hydrops fetalis Inverted nipples Aplasia cutis congenita Pericardial effusion Cutis marmorata Tricuspid regurgitation Lipodystrophy Broad thumb Hip dislocation Decreased fetal movement Wide intermamillary distance Delayed myelination Asthma Ascites Hepatic failure Urinary retention Corpus callosum atrophy Hip contracture Abnormal pyramidal sign Facial hypotonia Profound global developmental delay Appendicular hypotonia Profound static encephalopathy Schizophrenia Bipolar affective disorder Hearing impairment Flexion contracture Fever Abnormality of metabolism/homeostasis Visual loss Dementia Hypothyroidism Developmental regression Abnormality of the cerebral white matter Lewy bodies Poor suck Gangrene Abnormality of visual evoked potentials Keratoconjunctivitis sicca Diabetes insipidus Epiphora Keratitis Decreased nerve conduction velocity Neurodegeneration Progressive neurologic deterioration Focal-onset seizure Neuronal loss in central nervous system Generalized myoclonic seizures Parkinsonism Generalized muscle weakness Hypsarrhythmia Mild global developmental delay Aciduria Abnormality of the liver Molybdenum cofactor deficiency Xanthinuria Increased urinary hypoxanthine Xanthine nephrolithiasis Cataract Tremor Headache Depressivity Rod-cone dystrophy Hypogonadism Gait ataxia Photophobia Retinopathy Hypouricemia Confusion Peripheral axonal neuropathy Nausea Cirrhosis Distal sensory impairment Sensory neuropathy Polyneuropathy Sensory impairment Migraine Pigmentary retinopathy Type II diabetes mellitus Status epilepticus Increased urinary taurine Myoclonic spasms Hemiparesis Hypotelorism Midface retrusion Self-injurious behavior Neurodevelopmental delay Poor eye contact Hydrocephalus Hypertonia Macrotia EEG abnormality Anxiety Everted lower lip vermilion Dandy-Walker malformation Cerebral calcification Long eyelashes Lens luxation Holoprosencephaly Thick upper lip vermilion Fusion of the left and right thalami Long face Thick vermilion border Full cheeks Peripheral demyelination Spastic tetraparesis Ectopia lentis Opisthotonus Axonal loss Cardiorespiratory arrest Diffuse cerebral atrophy Intention tremor Cholestasis Broad nasal tip Chronic lactic acidosis Preeclampsia Short attention span Increased CSF lactate Breech presentation Episodic ataxia Severe lactic acidosis Broad philtrum Olivopontocerebellar atrophy Hyperalaninemia Flared nostrils Decreased activity of the pyruvate dehydrogenase complex Congenital lactic acidosis Basal ganglia cysts Ketosis Apneic episodes precipitated by illness, fatigue, stress Muscle weakness Respiratory insufficiency Respiratory distress Cardiomyopathy Blindness Behavioral abnormality Malar flattening Mandibular prognathia Apnea Protruding ear Dolichocephaly Flat face Mild microcephaly Hyperventilation Hypergonadotropic hypogonadism Agenesis of corpus callosum Bilateral single transverse palmar creases Paraparesis Spastic paraparesis Apathy Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Fat malabsorption Biliary tract abnormality Motor delay Dilatation Pneumonia Respiratory failure Infantile spasms Acidosis Abnormality of the nervous system Small for gestational age Ophthalmoplegia Abnormality of eye movement Lactic acidosis Metabolic acidosis Increased serum lactate Clumsiness Heterotopia Tachypnea Hyperammonemia Partial agenesis of the corpus callosum Nonimmune hydrops fetalis


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