Frontal bossing, and Babinski sign

Diseases related with Frontal bossing and Babinski sign

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

Top matches:

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

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Other less relevant matches:

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

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

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 HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B

Spastic paraplegia-47 is an autosomal recessive neurodegenerative 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).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Top 5 symptoms//phenotypes associated to Frontal bossing and Babinski sign

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Dysarthria Cognitive impairment Dystonia Hearing impairment Hypertelorism Microcephaly Gliosis Abnormality of the cerebral white matter Osteopenia Sensorineural hearing impairment Tetraplegia Hypoplasia of the corpus callosum Constipation Gait disturbance Failure to thrive Growth delay Flexion contracture Nystagmus Scoliosis Cerebellar atrophy Mental deterioration Intellectual disability, mild Ventriculomegaly Macrocephaly High palate Ataxia Short neck Hypothyroidism Hydrocephalus Psychosis Clonus Abnormal pyramidal sign Muscle weakness Motor delay Skeletal muscle atrophy Abnormality of the skeletal system Behavioral abnormality Kyphoscoliosis Hallucinations Encephalopathy Choreoathetosis Cerebral atrophy Spastic paraplegia Genu valgum Dysmetria Feeding difficulties Sleep disturbance Kyphosis Short stature Retinal degeneration Peripheral demyelination Intellectual disability, severe Neurodegeneration Neurological speech impairment Abnormality of metabolism/homeostasis Respiratory insufficiency Progressive neurologic deterioration Developmental regression Dysphagia Optic atrophy Hypertonia Wide nasal bridge Coarse facial features Spastic tetraplegia Prominent forehead Hepatomegaly Epicanthus Depressed nasal bridge Low-set ears Strabismus Depressivity

Rare Symptoms - Less than 30% cases

Anxiety Abnormality of the foot Paraplegia Hypertrichosis Hernia Increased intracranial pressure Difficulty walking Gait ataxia Pes cavus Midface retrusion Heart murmur Anteverted nares Widely spaced teeth Abnormal CNS myelination Prominent supraorbital ridges Macroglossia Muscular hypotonia of the trunk Thickened calvaria Areflexia Protruding tongue Abnormality of the dentition Inguinal hernia Recurrent respiratory infections Skeletal dysplasia Umbilical hernia Hepatosplenomegaly Pectus carinatum Talipes equinovarus Corneal opacity Abnormal hand morphology Abnormality of the gingiva Dementia Abnormality of joint mobility Thick eyebrow Emotional lability Drooling Spastic paraparesis Micrognathia Spastic gait Visual impairment Dysostosis multiplex Visual loss Bowel incontinence Hip dysplasia Splenomegaly Gingival overgrowth Diabetes mellitus Abnormal facial shape Abnormality of extrapyramidal motor function Amenorrhea Dental malocclusion Prominent nose Tremor Vomiting Bilateral sensorineural hearing impairment Leukodystrophy Sleep apnea Abnormality of visual evoked potentials Severe global developmental delay Camptodactyly Narrow forehead Febrile seizures Absent speech Peripheral neuropathy Downslanted palpebral fissures Diarrhea Chorea Abnormality of eye movement Myocardial infarction Hypertension Wide mouth Retinopathy Inability to walk Large face Progressive spasticity Myopia Neonatal hypotonia Severe muscular hypotonia Poor suck Flat occiput Respiratory failure EEG abnormality Elevated hepatic transaminase Recurrent upper respiratory tract infections Cardiomyopathy Back pain Hyperammonemia Edema Aqueductal stenosis Congestive heart failure Bulbar signs Thoracic scoliosis Long philtrum Corneal dystrophy Progressive hearing impairment Hypersomnia Microcoria Rhinitis Cerebral palsy Coronary artery atherosclerosis Flared metaphysis Pseudobulbar signs Multiple joint contractures Progressive macrocephaly Restrictive ventilatory defect Abnormal heart valve morphology Metatarsus adductus Diffuse demyelination of the cerebral white matter Toe walking Recurrent singultus Hyperpigmented nevi Arthropathy Stridor Language impairment Spinal canal stenosis Hemiplegia Asthma Elbow flexion contracture Aortic regurgitation Dolichocephaly Cardiomegaly Abnormality of the ribs Abnormality of the cardiovascular system Apnea Microdontia Pallor Joint stiffness Craniosynostosis Camptodactyly of finger Nyctalopia Stroke Carious teeth Dyspnea Progressive visual loss Abnormality of the skin Synophrys Dry skin Abnormality of skin pigmentation Hirsutism Wide nose Thick vermilion border High, narrow palate Everted lower lip vermilion Delayed eruption of teeth Broad nasal tip Conductive hearing impairment Proptosis Coxa vara Chronic diarrhea Opacification of the corneal stroma Abnormality of dental enamel Coxa valga Generalized hirsutism Headache Full cheeks Abnormal vertebral morphology Exotropia Abnormality of epiphysis morphology Thickened skin Long eyelashes Left ventricular hypertrophy Glaucoma Decreased body weight Encephalocele Abnormal form of the vertebral bodies Mitral regurgitation Split hand Arrhythmia Recurrent otitis media Interphalangeal joint contracture of finger Pneumonia Intellectual disability, profound Lumbar hyperlordosis Abdominal pain Limitation of joint mobility Broad femoral neck Short clavicles Abnormality of lysosomal metabolism Abnormality of glycosaminoglycan metabolism Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Broad long bone diaphyses Bullet-shaped phalanges of the hand Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Thick skull base Delayed tarsal ossification Broad ischia Flaring of rib cage Mandibular condyle hypoplasia Stiff interphalangeal joints Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils C1-C2 subluxation Abnormality of the tonsils Calcification of falx cerebri Hypoplasia of the femoral head Abnormality of the pubic bone Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Lumbar kyphosis Cervical kyphosis Short mandibular rami Abnormality of the tympanic membrane Abnormal mandible coronoid process morphology Hernia of the abdominal wall Hypotelorism Acetabular dysplasia Excessive salivation Facial hypotonia Genu recurvatum Abnormality of the periventricular white matter Open mouth Waddling gait Bulbous nose Short philtrum Pes planus Nasogastric tube feeding in infancy Postnatal microcephaly Broad-based gait Generalized tonic-clonic seizures Abnormality of premolar morphology Extrapyramidal dyskinesia Limb hypertonia Cortical gyral simplification Opisthotonus Hypoplasia of the brainstem Progressive microcephaly Involuntary movements Sloping forehead Epileptic encephalopathy Dyskinesia Cerebellar hypoplasia Delayed ossification of the hand bones Abnormal mandibular ramus morphology Urinary glycosaminoglycan excretion Thoracolumbar kyphoscoliosis Hypoplasia of the odontoid process Large earlobe Constrictive median neuropathy Endocardial fibroelastosis Seborrheic dermatitis Abnormal mitral valve morphology Pulmonary edema Foam cells Flared iliac wings Cor pulmonale Conical tooth Angina pectoris Hypoplastic ilia Upper airway obstruction Communicating hydrocephalus Beaking of vertebral bodies Hypoplasia of teeth Tracheal stenosis Abnormality of the respiratory system Diastasis recti Gingivitis Abnormality of the clavicle Abnormality of the skull Obstructive sleep apnea Recurrent lower respiratory tract infections Abnormality of the elbow Shallow orbits Peripheral visual field loss Protuberant abdomen Palpebral edema Abnormal aortic valve morphology Sagittal craniosynostosis Calvarial hyperostosis Anterior open bite Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Heparan sulfate excretion in urine Hip subluxation Atlantoaxial dislocation J-shaped sella turcica Prominent sternum Anterior rib cupping Large sella turcica Flared nostrils Narrow pelvis bone Meckel diverticulum Abnormal nerve conduction velocity Myelopathy Difficulty standing Sclerosis of skull base Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Retinal fold Recurrent ear infections Abnormal diaphysis morphology Diaphyseal thickening Delayed ossification of carpal bones Megalencephaly Rhinorrhea Abnormality of peripheral nerve conduction Hypothermia Abnormality of dental structure Poor coordination Overgrowth Cerebellar vermis atrophy Scleroderma Ankle clonus Spastic diplegia Hammertoe Impaired vibratory sensation Abnormality of the hand Slurred speech Hoarse voice Progressive muscle weakness Lower limb spasticity Specific learning disability Premature loss of teeth Abnormal cerebellum morphology Short foot Distal amyotrophy Joint hypermobility Lower limb muscle weakness Hydronephrosis Clinodactyly Pectus excavatum Brachydactyly Progressive alopecia Hypoplasia of the fallopian tube Ankle contracture Upper limb muscle weakness Decreased serum insulin-like growth factor 1 Hyperextensible hand joints Arthritis Macrotia Mandibular prognathia Delayed skeletal maturation Recurrent infections Immunodeficiency Malar flattening Myopathy Cataract Pain Hyperplasia of midface Morphea Dysuria Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormality of brain morphology Abnormality of the nares Overbite Mood swings Upper limb spasticity Speech apraxia Spastic dysarthria Abnormality of the thumb Progressive extrapyramidal movement disorder Streak ovary Broad forehead Decreased light- and dark-adapted electroretinogram amplitude Sparse hair Protruding ear High forehead Micropenis Hypogonadism Alopecia Diffuse hepatic steatosis No social interaction Abnormality of nervous system morphology Tapetoretinal degeneration CNS demyelination Inverted nipples Arthrogryposis multiplex congenita Hand polydactyly Abnormal electroretinogram Intellectual disability, progressive Generalized-onset seizure Pigmentary retinopathy Brain atrophy Hypodontia Irritability Polydactyly Brachycephaly Myoclonus Blindness Prominent nasal bridge Hypotrichosis Increased thyroid-stimulating hormone level Premature ovarian insufficiency Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Sparse eyebrow Hyperlipidemia Delayed puberty Purpura Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Sparse scalp hair Primary amenorrhea Fine hair Dehydration Decreased testicular size Triangular face Polyneuropathy Sensory neuropathy Abnormality of movement Respiratory tract infection Hypermetropia Increased CSF protein Epiphora Cerebellar cortical atrophy Spinal deformities EMG: chronic denervation signs Degeneration of the lateral corticospinal tracts Urinary retention Morphological abnormality of the pyramidal tract Corpus callosum atrophy Lewy bodies Gangrene Keratoconjunctivitis sicca Diabetes insipidus Keratitis Autoamputation of digits Decreased nerve conduction velocity Sensorimotor neuropathy Tetraparesis Neuronal loss in central nervous system Generalized myoclonic seizures Parkinsonism Generalized muscle weakness Unsteady gait Paralysis Cerebral cortical atrophy Short nose Fever Autoamputation Hypothalamic hypothyroidism Flattened moderately deformed vertebrae Muscle stiffness Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Dysphasia Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Encephalitis Dysphonia Leukoencephalopathy Abnormal autonomic nervous system physiology Diplopia Cerebellar gliosis Cerebral calcification Hypotension Sudden cardiac death Nausea and vomiting Cough Hyperlordosis Facial palsy Weight loss Hyperhidrosis Agenesis of corpus callosum Hyporeflexia Ptosis Spinocerebellar tract disease in lower limbs Synovial hypertrophy Confusion Low anterior hairline Aseptic necrosis Limb dystonia Bronchitis Abnormality of the sternum Femoral bowing Neurodevelopmental delay Open bite Bowing of the legs Chronic otitis media Recurrent bacterial infections Narrow palate Limb ataxia Patellar dislocation Amblyopia Tall stature Bowing of the long bones Depressed nasal ridge Pancytopenia Type II diabetes mellitus Optic disc pallor Otitis media Decreased antibody level in blood Delayed myelination Progressive cerebellar ataxia Highly arched eyebrow Severe sensorineural hearing impairment Delusions Progressive joint destruction Retinal thinning Antineutrophil antibody positivity Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Long ear Impaired smooth pursuit Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Everted upper lip vermilion


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