Hyperreflexia, and Hernia

Diseases related with Hyperreflexia and Hernia

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

Top matches:

Related symptoms:

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 2; HKPX2

Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29 Is also known as spg29

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

Other less relevant matches:

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

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

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Top 5 symptoms//phenotypes associated to Hyperreflexia and Hernia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Inguinal hernia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Myoclonus Macrocephaly Generalized hypotonia Hypertonia Hiatus hernia Muscular hypotonia Umbilical hernia Flexion contracture Coarse facial features Lower limb hyperreflexia Prominent forehead Pes cavus Intellectual disability, severe Vomiting Gastroesophageal reflux Scoliosis Strabismus Exaggerated startle response

Rare Symptoms - Less than 30% cases

Gait disturbance Choreoathetosis Hypertelorism Adducted thumb Brisk reflexes Gingival overgrowth Cataract Protruding ear Wide mouth Encephalopathy Hip dislocation Generalized tonic-clonic seizures Mandibular prognathia Clinodactyly Nystagmus Congenital hip dislocation Loss of consciousness Cerebral cortical atrophy Rigidity Spastic paraplegia Low-set ears Urinary incontinence Babinski sign Abnormal facial shape Impaired vibratory sensation Urinary urgency Sensorineural hearing impairment Hearing impairment Talipes equinovarus Frontal bossing Paraplegia Feeding difficulties High palate Microcephaly Hyperactivity Motor delay Failure to thrive Myopia Cerebral visual impairment Macroglossia Hypermelanotic macule Increased serum lactate Global brain atrophy Status epilepticus Generalized-onset seizure Aortic regurgitation Progressive neurologic deterioration Delayed cranial suture closure Unilateral renal agenesis Cutis laxa Tetraparesis Visual impairment Retinal degeneration Inability to walk Dermal translucency Hepatomegaly Optic atrophy Developmental stagnation Blindness Midface retrusion Absent speech Small foramen magnum Visual loss Hepatosplenomegaly Abnormality of skin pigmentation Feeding difficulties in infancy Calcaneovalgus deformity Developmental regression Irritability Pallor Premature skin wrinkling Spinal canal stenosis Reduced subcutaneous adipose tissue Abnormal retinal morphology Foot dorsiflexor weakness Multifocal epileptiform discharges Small nail Short nose Obesity Pneumonia Posteriorly rotated ears Micropenis Thin upper lip vermilion Respiratory tract infection Dolichocephaly Wide nose Single transverse palmar crease Tapered finger Wide intermamillary distance Broad thumb Anteverted nares Multicystic kidney dysplasia Intellectual disability, progressive Recurrent upper respiratory tract infections Deep philtrum Radial deviation of finger Short finger Broad palm Hyperactive deep tendon reflexes Scaphocephaly Thickened nuchal skin fold Abnormality of the rib cage U-Shaped upper lip vermilion Short neck Epicanthus Hyporeflexia of upper limbs Recurrent otitis media Developmental stagnation at onset of seizures Depressed nasal bridge Ventricular septal defect Edema Abnormality of the dentition Kyphosis Thrombocytopenia Polydactyly Skeletal dysplasia Leukemia Neutropenia Eczema Wormian bones Cleft palate Mild short stature Acute lymphoblastic leukemia Upper limb undergrowth Short 4th metacarpal Abnormality of chromosome segregation Short 5th metacarpal Ectopic calcification Lower limb hypertonia Giant platelets Median cleft palate Folate deficiency Hyposegmentation of neutrophil nuclei Short 3rd metacarpal Spontaneous abortion Thick vermilion border Thin skin Aspiration Fever Fatigue Anxiety Apnea Joint stiffness Abnormality of movement Falls Sleep disturbance Epileptic encephalopathy Frequent falls Fasciculations Distal arthrogryposis Muscle stiffness Joint dislocation Myotonia Hypokinesia Atonic seizures Esophagitis Myokymia Nocturnal seizures Short stature Muscle weakness Ataxia Hypsarrhythmia Dysarthria Nocturia Astigmatism Esotropia Meningitis Glabellar reflex Clonus Hyperbilirubinemia Impaired proprioception Upper limb spasticity Neonatal hyperbilirubinemia Hyperreflexia in upper limbs Kernicterus Delayed myelination Urinary hesitancy Abnormality of the rectum Abnormality of the lower urinary tract Tremor Respiratory distress Cerebral atrophy Respiratory failure Kyphoscoliosis Camptodactyly Arthrogryposis multiplex congenita Peripheral neuropathy Skeletal muscle atrophy Oligohydramnios High-frequency hearing impairment Long face Neurodegeneration Prominent nose Dandy-Walker malformation Cerebral calcification Narrow face Pointed chin Self-injurious behavior Aplasia/Hypoplasia of the cerebellum Basal ganglia calcification Abnormality of the basal ganglia Deeply set eye Growth delay Intrauterine growth retardation Autism Osteopenia Postnatal growth retardation Autistic behavior Broad forehead Corneal opacity Congenital cataract Triangular face Aggressive behavior Difficulty walking Abnormality of the skeletal system Short 5th finger Delayed skeletal maturation Lower limb muscle weakness Abnormal cerebellum morphology Specific learning disability Lower limb spasticity Paraparesis Spastic paraparesis Abnormality of pelvic girdle bone morphology Generalized amyotrophy Progressive spasticity Motor polyneuropathy High forehead Carpal bone hypoplasia Abnormal upper motor neuron morphology Shallow acetabular fossae Chorioretinal dystrophy Dysfunction of lateral corticospinal tracts Cryptorchidism Ventriculomegaly Hydrocephalus Cerebellar hypoplasia Dementia Gait ataxia Facial capillary hemangioma


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