Frontal bossing, and Peripheral demyelination

Diseases related with Frontal bossing and Peripheral demyelination

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


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High match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A


Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

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

High match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B


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

High match PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY


Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

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Other less relevant matches:

High match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

High match D-BIFUNCTIONAL PROTEIN DEFICIENCY


D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

High match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Medium match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Medium 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

Medium match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Peripheral demyelination

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

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

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Strabismus Muscular hypotonia Depressed nasal bridge Epicanthus Long philtrum Ventriculomegaly Hypoplasia of the corpus callosum Gliosis Microcephaly Growth delay Neurological speech impairment High palate Failure to thrive Delayed myelination Osteopenia Abnormality of the cerebral white matter Hyperreflexia Severe global developmental delay Cerebral atrophy Cognitive impairment Hydrocephalus Irritability Muscle weakness Deeply set eye Short neck Spasticity EEG abnormality Hepatomegaly Long face Wide nasal bridge Optic atrophy Short nose Anteverted nares Malar flattening Spastic tetraplegia Cataract Gait disturbance Hearing impairment Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Brain atrophy Behavioral abnormality Abnormality of the skeletal system Leukodystrophy Tetraplegia Scoliosis Retinal degeneration Ptosis Delayed speech and language development Hypertonia Developmental regression Ataxia Full cheeks Neonatal hypotonia Increased CSF protein Talipes equinovarus Skeletal muscle atrophy Visual impairment Micrognathia Delayed skeletal maturation High forehead Retrognathia Dolichocephaly Hyperactivity Focal-onset seizure Dysarthria Bowel incontinence Aciduria Dysmetria Hyperlordosis Broad nasal tip Cerebral dysmyelination Depressivity Kyphosis Vomiting Tremor Motor delay Cerebellar atrophy Elevated hepatic transaminase Skeletal dysplasia Low-set ears Sensorineural hearing impairment Feeding difficulties in infancy Mandibular prognathia Molybdenum cofactor deficiency Opisthotonus Axonal loss Coarse facial features Ectopia lentis Lens luxation Myoclonic spasms Hypouricemia Xanthine nephrolithiasis Xanthinuria Respiratory failure Increased urinary hypoxanthine Increased urinary taurine Myopia Encephalopathy Tetraparesis Intellectual disability, severe Myoclonus Blindness Dystonia Thick vermilion border Spastic tetraparesis Dysphagia Prominent forehead Brachycephaly Broad forehead Babinski sign Macroglossia Progressive cerebellar ataxia Highly arched eyebrow Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Spondylolisthesis Abnormal cornea morphology Craniofacial hyperostosis Abnormality of the rib cage Synovitis Abnormal echocardiogram Oligosacchariduria Thoracolumbar kyphosis Synostosis of joints Neurodegeneration Vacuolated lymphocytes Retinal thinning Long ear Cranial hyperostosis Abnormality of the gingiva Patellar dislocation Open bite Severe sensorineural hearing impairment Amblyopia Narrow palate Type II diabetes mellitus Low anterior hairline Spastic gait Hallucinations Gingival overgrowth Tall stature Hip dysplasia Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Spondylolysis Pancytopenia Psychosis Optic disc pallor Otitis media Aseptic necrosis Bowing of the legs Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Flat occiput Decreased antibody level in blood Heart murmur Chronic otitis media Dental malocclusion Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Limb ataxia Flat face Increased vertebral height Delayed CNS myelination Infantile encephalopathy Anteverted ears Narrow naris Inspiratory stridor Generalized tonic seizures Episodic vomiting Periventricular leukomalacia Dilation of lateral ventricles Cardiogenic shock Turricephaly Stridor Focal impaired awareness seizure Shock Aortic regurgitation Severe muscular hypotonia Absence seizures Glutaric aciduria Subependymal cysts Involuntary movements Short metacarpal Infra-orbital crease Pseudohypoparathyroidism Underdeveloped supraorbital ridges Delayed ability to walk Short metatarsal Laryngomalacia Short palpebral fissure Short foot D-2-hydroxyglutaric aciduria Thin vermilion border Astigmatism Obesity Intrauterine growth retardation Brachydactyly Cryptorchidism Short stature Multifocal cerebral white matter abnormalities Cerebral visual impairment Hypsarrhythmia Increased hepatic glycogen content Synovial hypertrophy Delayed gross motor development Generalized myoclonic seizures Poor speech Microtia Gastroesophageal reflux Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Progressive joint destruction Downslanted palpebral fissures Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Postnatal macrocephaly Microphthalmia Epileptic encephalopathy Adducted thumb Confusion Lethargy Protruding ear Apnea Cerebral cortical atrophy Cardiomyopathy Respiratory distress Tented upper lip vermilion Acidosis Infantile muscular hypotonia Postnatal microcephaly Underdeveloped nasal alae Metabolic acidosis Bulbous nose Hepatic failure Lactic acidosis Sparse hair Thick eyebrow Progressive hearing impairment Genu valgum Sleep disturbance Diplopia Cerebral calcification Amenorrhea Hypotension Chorea Sudden cardiac death Abnormality of eye movement Muscle stiffness Nausea and vomiting Cough Abnormal pyramidal sign Facial palsy Hypothyroidism Weight loss Diabetes mellitus Clonus Abnormal autonomic nervous system physiology Dementia Progressive spasticity Hypothermia Megalencephaly Poor coordination Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Dysphasia Leukoencephalopathy Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Encephalitis Dysphonia Sleep apnea Hyperhidrosis Agenesis of corpus callosum Aqueductal stenosis Reduced xanthine dehydrogenase activity Diffuse cerebral atrophy Cardiorespiratory arrest Aldehyde oxidase deficiency Absent urinary urothione Decreased urinary urate Increased urinary thiosulfate Increased urinary sulfite Polydactyly Decreased urinary sulfate Sulfite oxidase deficiency Abnormal muscle tone Hemiplegia Poor head control Progressive microcephaly Neuronal loss in central nervous system Abnormality of metabolism/homeostasis Retinopathy Constipation Decreased light- and dark-adapted electroretinogram amplitude Hyporeflexia Hypertension Diffuse hepatic steatosis No social interaction Abnormality of nervous system morphology Tapetoretinal degeneration CNS demyelination Abnormality of visual evoked potentials Hypodontia Inverted nipples Hand polydactyly Abnormal electroretinogram Intellectual disability, progressive Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Bulbar signs Hypersomnia Abnormality of the foot Calcific stippling Splenomegaly Intellectual disability, mild Abnormality of the dentition Myopathy Pain Generalized cerebral atrophy/hypoplasia Fetal ascites Recurrent infections Renal cortical microcysts Chylous ascites Cerebral hypoplasia Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Immunodeficiency Midface retrusion Adrenal hypoplasia Arthritis Hypermetropia Corneal opacity Pectus carinatum Respiratory tract infection Mental deterioration Anxiety Hepatosplenomegaly Hernia Umbilical hernia Kyphoscoliosis Macrotia Gait ataxia Recurrent respiratory infections Inguinal hernia Areflexia Aspiration pneumonia Scaphocephaly Large face Hypospadias Abnormality of the liver Polyhydramnios Upslanted palpebral fissure Pneumonia Visual loss Pectus excavatum Dilatation Polymicrogyria Congestive heart failure Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Talipes Hepatic steatosis Primary adrenal insufficiency Aspiration Cortical dysplasia Thoracic hypoplasia Delayed cranial suture closure Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Hammertoe Decreased nerve conduction velocity Large fontanelles Renal cyst Pachygyria Heterotopia Cholestasis Split hand Progressive visual loss Abdominal distention Ascites Frontal hirsutism



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