Frontal bossing, and Dyskinesia

Diseases related with Frontal bossing and Dyskinesia

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

Top matches:

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

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

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

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS

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

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Dystonia

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Strabismus Macrocephaly Spasticity Inability to walk Prominent forehead Choreoathetosis Absent speech Failure to thrive Microcephaly Cerebral atrophy Tremor Abnormal facial shape Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Neurological speech impairment Delayed speech and language development Deeply set eye Cognitive impairment Poor speech Involuntary movements Epileptic encephalopathy

Rare Symptoms - Less than 30% cases

Severe muscular hypotonia Midface retrusion Opisthotonus Dementia Delayed myelination Bulbous nose Broad forehead Abnormality of the cerebral white matter Visual impairment Osteopenia Constipation Ventriculomegaly Abnormality of extrapyramidal motor function Cerebellar atrophy Hypertonia Epicanthus Hyperactivity Abnormality of eye movement Fever Motor delay Rigidity Nystagmus Abnormality of movement Ptosis Ataxia Anteverted nares Self-injurious behavior Anteriorly placed anus Acidosis Neonatal hypotonia Stroke Paralysis Abnormality of the pinna Respiratory tract infection Frontal upsweep of hair Protruding ear Irritability Developmental regression Feeding difficulties in infancy Hypoglycemia Poor eye contact Hypertelorism Dysphagia Hyperhidrosis Dilatation Underdeveloped superior crus of antihelix Headache Vomiting Muscular hypotonia Myopathy Hepatomegaly Abnormal heart morphology Relative macrocephaly Edema Cardiomyopathy Large forehead Gait disturbance Encephalitis Vertigo Macrocephaly at birth Dilation of lateral ventricles Decreased plasma carnitine Fasting hypoglycemia Acute encephalopathy Infantile encephalopathy Retinal hemorrhage Glutaric aciduria Glutaric acidemia Symmetrical progressive peripheral demyelination Cerebral ischemia Ketonemia Subdural hemorrhage Gastroesophageal reflux Hyperlordosis Microtia Long face Generalized myoclonic seizures Focal-onset seizure Delayed gross motor development Abnormality of the retinal vasculature Ketonuria Metabolic acidosis Joint dislocation Coma Abnormal cerebellum morphology Gliosis Migraine Aciduria Neuronal loss in central nervous system Dehydration Large fontanelles Exercise intolerance Cerebral palsy Generalized dystonia Leukoencephalopathy Hyperkinesis Cerebral cortical atrophy Hemiplegia Intracranial hemorrhage Spastic diplegia Malnutrition Bulbar palsy Malignant hyperthermia Neurodevelopmental delay EEG abnormality Intellectual disability, severe Triangular face Short philtrum Prominent nasal bridge Severe global developmental delay Smooth philtrum Small hand Tapered finger Sleep disturbance Brain atrophy Thin upper lip vermilion Prominent nose Esotropia Intellectual disability, profound Open mouth Plagiocephaly Infantile muscular hypotonia Tented upper lip vermilion Joint laxity High forehead Failure to thrive in infancy Lewy bodies Dysarthria Parkinsonism Cerebral calcification Bradykinesia Slurred speech Resting tremor Megalencephaly Shuffling gait Brachycephaly Cogwheel rigidity Scoliosis Low-set ears Intrauterine growth retardation Downslanted palpebral fissures Short neck Posteriorly rotated ears Cachexia Global brain atrophy Retrognathia Nasogastric tube feeding Wide mouth Thick eyebrow High, narrow palate Thick lower lip vermilion Cerebral visual impairment Sparse eyebrow Delayed ability to walk Recurrent hand flapping Telecanthus Generalized tonic-clonic seizures Hypodontia Cyanosis Status epilepticus Multifocal seizures Focal clonic seizures Gait ataxia Autistic behavior Macrotia Hip contracture Chorea Facial hypotonia Profound global developmental delay Generalized tonic seizures Appendicular hypotonia Profound static encephalopathy Babinski sign Cerebellar hypoplasia Sloping forehead Depressed nasal bridge Progressive microcephaly Clonus Poor suck Hypoplasia of the brainstem Cortical gyral simplification Limb hypertonia Extrapyramidal dyskinesia High palate Postnatal macrocephaly


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