Flexion contracture, and Generalized seizures

Diseases related with Flexion contracture and Generalized seizures

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


Top matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

Low match ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS

(1p21).

ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS Is also known as ;slc35a3-cdg

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MONDO UMLS

More info about ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM DOID UMLS MONDO

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC

Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC Is also known as ;pharc syndrome; peripheral neuropathy, fiskerstrand type

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MONDO UMLS MESH DOID

More info about POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC

Low match MICROHYDRANENCEPHALY; MHAC

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

MICROHYDRANENCEPHALY; MHAC Is also known as hydranencephaly and microcephaly;mhac

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Motor delay


SOURCES: UMLS OMIM ORPHANET MESH MONDO GARD

More info about MICROHYDRANENCEPHALY; MHAC

Low match ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR

This severe autosomal recessive disorder is characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR Is also known as ;congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS ORPHANET MONDO OMIM

More info about ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

Low match PERMANENT NEONATAL DIABETES MELLITUS

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: UMLS ORPHANET SCTID

More info about PERMANENT NEONATAL DIABETES MELLITUS

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U Is also known as cdg iu;cdgiu;cdg syndrome type iu; cdg-iu; cdg1u; cmd with intellectual disability and severe epilepsy; carbohydrate deficient glycoprotein syndrome type iu; congenital disorder of glycosylation type 1u; congenital disorder of glycosylation type iu; dpm2-cdg

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM GARD ORPHANET MONDO UMLS

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U

Low match GAUCHER DISEASE, TYPE II

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gd ii, gaucher disease, acute neuronopathic type;acute neuronopathic gaucher disease; infantile cerebral gaucher disease

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Strabismus
  • Failure to thrive


SOURCES: UMLS GARD OMIM MONDO SCTID ORPHANET DOID

More info about GAUCHER DISEASE, TYPE II

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized myoclonic seizures Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hyperreflexia Motor delay Scoliosis Feeding difficulties Ataxia Cerebral atrophy Spastic tetraplegia Intellectual disability, severe Intellectual disability, profound Spasticity

Rare Symptoms - Less than 30% cases


Hypoplasia of the corpus callosum Cerebellar atrophy Tetraplegia Hearing impairment Respiratory distress Cataract Aspiration Optic atrophy Blindness Hammertoe Strabismus Cerebellar hypoplasia Failure to thrive Brain atrophy Tetraparesis Growth delay Congenital onset Short stature Autosomal dominant inheritance Delayed myelination Tremor Esotropia Athetosis Epileptic encephalopathy Gait ataxia Muscular hypotonia Hypertonia Micrognathia Nystagmus Arthrogryposis multiplex congenita Scaling skin Trismus Drusen Intrauterine growth retardation Coma Abnormal heart morphology Abnormality of visual evoked potentials Retinopathy Weight loss Bulbar signs Peripheral axonal neuropathy Downturned corners of mouth Apraxia Generalized tonic-clonic seizures Dehydration Bilateral ptosis Focal motor seizures Muscle fibrillation Arrhythmia Visual impairment Absent speech Kyphoscoliosis Developmental regression Pruritus Abnormality of movement Tapered finger Hirsutism Abnormal pattern of respiration Hypsarrhythmia Cortical visual impairment Cognitive impairment Glycosuria Nephrocalcinosis Calcinosis Neonatal onset Hyperglycemia Thrombocytopenia Prominent metopic ridge Primitive reflex Postnatal microcephaly Trigonocephaly Cough Ophthalmoplegia Severe muscular hypotonia Myopathic facies Congenital contracture Apnea Dental malocclusion Rigidity Respiratory failure Anemia Recurrent respiratory infections Hepatomegaly Splenomegaly Dysphagia Encephalopathy Hypotelorism Death in infancy Ketonuria Reduced pancreatic beta cells Dystonia Neurodevelopmental delay Abnormality of the upper urinary tract Hypovolemia Microalbuminuria Pancreatic hypoplasia Neonatal insulin-dependent diabetes mellitus Contractures of the joints of the lower limbs Abnormal facial shape Progressive neurologic deterioration High palate Short nose Protuberant abdomen Elevated serum creatine phosphokinase Oculomotor apraxia Thin upper lip vermilion Respiratory tract infection Cardiac arrest Renal tubular dysfunction Poor head control Asthma Peripheral neuropathy Neonatal hypotonia Irritability Progressive microcephaly Opisthotonus Progressive spastic quadriplegia Diffuse cerebellar atrophy Sensorineural hearing impairment Dysarthria Progressive Gait disturbance Hyporeflexia Areflexia Babinski sign Pes cavus Rod-cone dystrophy Slow progression Nyctalopia Osteoporosis Infantile onset Distal sensory impairment Autism EEG abnormality Abnormality of the eye Abnormality of eye movement Status epilepticus Limb hypertonia Alternating esotropia Pica Intellectual disability, mild Intellectual disability, moderate Typical absence seizures Camptodactyly of finger Hip dislocation Autistic behavior Hip dysplasia Absence seizures Microretrognathia Knee dislocation Atypical absence seizures Retinal degeneration Distal amyotrophy High myopia Hydranencephaly Intellectual disability, progressive Knee flexion contracture Hypoplasia of the brainstem Generalized amyotrophy Multiple joint contractures Anencephaly Self-mutilation Profound global developmental delay Myopia Sloping forehead Inguinal hernia Hernia Erythema Hyperkeratosis Photophobia Pallor Ichthyosis Dry skin Pachygyria Small for gestational age Dysmetria Posterior subcapsular cataract Polyneuropathy Intention tremor Spastic gait Sensorimotor neuropathy Decreased nerve conduction velocity Onset Motor polyneuropathy Subcapsular cataract Achilles tendon contracture Prominent nasal bridge Capsular cataract Stuttering Skeletal muscle atrophy Ventriculomegaly Talipes equinovarus Agenesis of corpus callosum Macrotia Proptosis Recurrent aspiration pneumonia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Renal cyst, related diseases and genetic alterations Dysarthria and Micropenis, related diseases and genetic alterations Macrocephaly and Vomiting, related diseases and genetic alterations Lymphoma and Astigmatism, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more