Flexion contracture, and Generalized tonic-clonic seizures

Diseases related with Flexion contracture and Generalized tonic-clonic seizures

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

Top matches:

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

Other less relevant matches:

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY SYNDROME

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures
  • Febrile seizures
  • Absence seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14

Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of EIG, see {600669}.For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.For a general phenotypic description and a discussion of genetic heterogeneity of EJM, see {254770}.

Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures
  • Focal-onset seizure
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10

Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see {600669}).For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}.For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (OMIM ) and JME (OMIM ), respectively.

Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Febrile seizures
  • Cutaneous photosensitivity
  • Absence seizures


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13

Top 5 symptoms//phenotypes associated to Flexion contracture and Generalized tonic-clonic seizures

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Generalized myoclonic seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Generalized tonic-clonic seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Failure to thrive Microcephaly Hearing impairment Absence seizures Neurodevelopmental delay Nystagmus Feeding difficulties Abnormal facial shape Cerebral cortical atrophy Mandibular prognathia Ventriculomegaly Arthrogryposis multiplex congenita Ataxia Delayed speech and language development Intellectual disability, severe Weight loss Febrile seizures

Rare Symptoms - Less than 30% cases

Skeletal muscle atrophy Myoclonus Severe global developmental delay Pain Hyperkinesis Drooling Hyperreflexia Epileptic encephalopathy Unsteady gait Scoliosis Gastroesophageal reflux Macrotia Poor speech Vomiting Midface retrusion Absent speech Dysphagia Autism Narrow chest Hepatosplenomegaly Encephalopathy Developmental regression Deeply set eye Generalized-onset seizure Inability to walk Feeding difficulties in infancy Irritability Hypertonia Glycosuria Contractures of the joints of the lower limbs Hypovolemia Recurrent infections Abnormality of the upper urinary tract Autoimmune antibody positivity Ketonuria Renal tubular dysfunction Prominent metopic ridge Hyperglycemia Brachycephaly Bilateral ptosis Apraxia Dehydration Coma Downturned corners of mouth Abnormal heart morphology Intrauterine growth retardation Motor delay Recurrent respiratory infections Growth delay Optic atrophy Micrognathia Hepatomegaly Phonic tics Stridor Proximal amyotrophy Depressed nasal bridge Brachydactyly Pendular nystagmus Respiratory distress Impulsivity Gait disturbance Macrocephaly Communicating hydrocephalus Frontal bossing Abnormality of the skeletal system Talipes equinovarus Laryngomalacia Dilatation Spastic tetraparesis Narrow palpebral fissure Short neck Spastic tetraplegia Tics Tortuosity of conjunctival vessels Angiokeratoma corporis diffusum Lower limb muscle weakness Aspartylglucosaminuria Neurological speech impairment Attention deficit hyperactivity disorder Hypoplasia of the abdominal wall musculature Increased urinary disaccharide excretion Hypertelorism Cleft palate Aggressive behavior Intention tremor Demyelinating peripheral neuropathy Urinary glycosaminoglycan excretion Cryptorchidism Angiokeratoma Babinski sign Abnormality of metabolism/homeostasis Thenar muscle atrophy Spasticity Low-set ears Subcortical cerebral atrophy Hyperactivity Otitis media Short nose Short femur Short metatarsal Elbow dislocation Oral-pharyngeal dysphagia Clubbing Flat occiput Spondyloepiphyseal dysplasia Tibial bowing Progressive spasticity Atonic seizures Short humerus Loss of speech Bell-shaped thorax Radial bowing 11 pairs of ribs Abnormality of the outer ear Fused cervical vertebrae Lethal skeletal dysplasia Coronal cleft vertebrae Intestinal pseudo-obstruction Fibular aplasia Long clavicles Aplasia/Hypoplasia of the ulna Laryngeal stenosis Multiple joint dislocation Thoracic platyspondyly Club-shaped proximal femur Multinucleated giant chondrocytes in epiphyseal cartilage Distal tapering femur Focal-onset seizure Disproportionate short-limb short stature Joint dislocation Malar flattening Autistic behavior Hypospadias Depressivity Constipation Pneumonia Severe short stature Abdominal pain Respiratory failure Proptosis Polyhydramnios Skeletal dysplasia Anxiety Hyperlordosis Respiratory tract infection Talipes Recurrent pneumonia Nausea Abdominal distention Premature birth Short metacarpal Tremor Limb undergrowth Lumbar hyperlordosis Encephalocele Recurrent urinary tract infections Rhizomelia Sinusitis Aspiration Meningitis Muscle stiffness Cerebral atrophy Neuronal loss in central nervous system Dysarthria Small anterior fontanelle Limb hypertonia Hypoplasia of the fovea Enlarged cisterna magna Decreased skull ossification Dilation of lateral ventricles Cleft soft palate Organic aciduria Severe lactic acidosis Congenital microcephaly Spinal dysraphism Temperature instability Visual impairment Lissencephaly Blindness Hernia Visual loss Coarse facial features Pallor Retinal degeneration Abnormality of skin pigmentation Macroglossia Increased serum lactate Status epilepticus Tetraparesis Progressive neurologic deterioration Partial agenesis of the corpus callosum Spina bifida Gingival overgrowth Elevated hemoglobin A1c Retinopathy Peripheral axonal neuropathy Microalbuminuria Pancreatic hypoplasia Neonatal insulin-dependent diabetes mellitus Reduced pancreatic beta cells Diabetes mellitus Insulin resistance Steatorrhea Maternal diabetes Transient neonatal diabetes mellitus Abnormality of the pancreatic islet cells Cerebellar hypoplasia Progressive microcephaly Agenesis of corpus callosum Osteoporosis Acidosis Osteopenia Muscular hypotonia of the trunk Lactic acidosis Metabolic acidosis Limitation of joint mobility Aciduria Sloping forehead Decreased fetal movement Cerebellar vermis hypoplasia Choreoathetosis Cerebral visual impairment Peripheral neuropathy Bowel incontinence Truncal ataxia Narrow face Intellectual disability, progressive Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Mutism Adducted thumb Cachexia Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Decreased muscle mass Dysphasia Stereotypy Long nose Slender finger Atrophy/Degeneration affecting the brainstem Dyslexia Abnormality of the nose Happy demeanor Inappropriate laughter Conspicuously happy disposition Photosensitive tonic-clonic seizures Loss of ability to walk in first decade Muscle weakness Cognitive impairment Clonus Postnatal microcephaly Loss of consciousness Pectus excavatum Global brain atrophy Hypermelanotic macule Lower limb hyperreflexia Abnormal retinal morphology Developmental stagnation Multifocal epileptiform discharges Hyporeflexia of upper limbs Developmental stagnation at onset of seizures Strabismus Cerebellar atrophy Dystonia Intellectual disability, mild Gait ataxia Decreased body weight Abnormality of the eye Ophthalmoplegia Abnormality of the foot Abnormality of eye movement Joint hyperflexibility Long face Thick eyebrow Sleep disturbance Urinary incontinence Intellectual disability, profound Open mouth Involuntary movements Cutaneous photosensitivity


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