Hyperreflexia, and Eczema

Diseases related with Hyperreflexia and Eczema

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

Top matches:

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

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

Other less relevant matches:

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Eczema

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hypertelorism Short stature Strabismus Cognitive impairment Anemia Attention deficit hyperactivity disorder Cataract Failure to thrive Depressivity Hearing impairment Hypertonia Tremor Ventriculomegaly Gastroesophageal reflux Hypoplasia of the corpus callosum Anteverted nares Gingival overgrowth Macrocephaly Asthma Ichthyosis Kyphosis Protruding ear Postnatal growth retardation Nystagmus Seborrheic dermatitis Ataxia Encephalopathy Cerebral atrophy Sparse hair Vomiting Anxiety Short neck Cerebellar atrophy Cerebellar hypoplasia Cerebral calcification Spasticity Delayed speech and language development High palate Dysarthria Autism Myopathy Abnormality of the dentition Myoclonus

Rare Symptoms - Less than 30% cases

Hypogonadism Areflexia Recurrent infections Flexion contracture Retrognathia Pneumonia Brachydactyly Reduced tendon reflexes Hepatomegaly Scoliosis Long philtrum Cardiorespiratory arrest Lethargy Abnormal facial shape Acidosis Alopecia Atopic dermatitis Congestive heart failure Photophobia Dry skin Cerebral visual impairment Generalized myoclonic seizures Cerebral cortical atrophy Headache Abnormality of the liver Intrauterine growth retardation Gait imbalance Apnea Developmental regression Stroke Abnormality of eye movement Hemolytic anemia Spastic diplegia Malabsorption Intestinal obstruction Macular degeneration Generalized-onset seizure Inflammatory abnormality of the skin Small nail Pruritus Nausea Delayed myelination Osteopenia Psychosis Motor delay Coma Fatigue Pes cavus Hyporeflexia Sensory impairment Hyperphenylalaninemia Wide nasal bridge Depressed nasal bridge Elevated serum creatine phosphokinase Muscular hypotonia of the trunk Hirsutism Dysphagia Neutropenia Generalized tonic-clonic seizures Small for gestational age Synophrys Dystonia Long face Prominent forehead Hip dysplasia Mental deterioration Feeding difficulties Hemiplegia Skeletal muscle atrophy Memory impairment Muscular hypotonia Erythema Intellectual disability, severe Nausea and vomiting Sensorineural hearing impairment Constipation Behavioral abnormality Folate deficiency Bifid scrotum Aplasia/Hypoplasia of the cerebellum Vestibular dysfunction Polyneuropathy Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Nephropathy Mask-like facies Hemiplegia/hemiparesis Abnormality of neuronal migration Focal segmental glomerulosclerosis Polymicrogyria Dysphasia Lactic acidosis Multiple lipomas Thyroiditis Rhabdomyolysis Hyperthyroidism Congenital cataract Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Carious teeth Delayed puberty Peripheral axonal neuropathy Anal atresia Prolonged QT interval Dysmetria Visual field defect Hyperkalemia Paresthesia Postural instability Confusion Vertigo Personality changes Bilateral ptosis Muscle cramps Hypertrichosis Pulmonary arterial hypertension External ophthalmoplegia Pancreatitis Purpura Status epilepticus Ventricular hypertrophy Exercise intolerance Type I diabetes mellitus Atrial fibrillation Hemiparesis Hypogonadotrophic hypogonadism Generalized hirsutism Ischemic stroke EMG abnormality Truncal ataxia Primary adrenal insufficiency Cardiac arrest Clonus Hallucinations Abnormality of retinal pigmentation Involuntary movements Decreased body weight Anorexia Left ventricular hypertrophy Ragged-red muscle fibers Type II diabetes mellitus Ophthalmoparesis Easy fatigability Abnormal cerebellum morphology Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hypercalciuria Sudden cardiac death Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Migraine Hypopigmented skin patches Hyperkinesis Increased serum lactate Specific learning disability Amenorrhea Pigmentary retinopathy Goiter Abnormality of the cardiovascular system Schizophrenia Mutism Bilateral sensorineural hearing impairment Nephrotic syndrome Abnormality of immune system physiology Hemianopia Pulmonary embolism Narrow palpebral fissure Downslanted palpebral fissures Myopia Low-set ears Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Combined immunodeficiency Glomerulonephritis Recurrent skin infections Leukopenia Vasculitis Proptosis Lymphopenia Bronchiectasis Lymphoma Respiratory tract infection Abnormality of the nervous system Conductive hearing impairment Recurrent respiratory infections Immunodeficiency Abnormality of the skeletal system Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Pectus excavatum Macrotia Abnormality of acid-base homeostasis Flat occiput Talipes cavus equinovarus Prominent protruding coccyx Broad chin Thickened ears Prominent coccyx Caesarian section Sleep-wake cycle disturbance Short digit Toenail dysplasia Nasolacrimal duct obstruction Thickened helices Depressed nasal tip Aplasia cutis congenita Oral-pharyngeal dysphagia Thin upper lip vermilion Chronic otitis media Prominent supraorbital ridges Delayed gross motor development Sacral dimple Microretrognathia Pointed chin Cerebellar vermis hypoplasia Broad nasal tip High, narrow palate Bulbous nose Joint hypermobility Autistic behavior Deeply set eye Episodic quadriplegia Homonymous hemianopia Distal arthrogryposis Aortic dissection Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Stroke-like episode Anterior hypopituitarism Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Facial diplegia Ileus Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Proximal tubulopathy Arthrogryposis multiplex congenita Abnormal cochlea morphology Psychotic episodes Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Tubulointerstitial abnormality Abnormality of the renal tubule Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Ophthalmoplegia Absent septum pellucidum Dilated cardiomyopathy Nail dystrophy Brittle hair Dysphonia Increased bone mineral density Telangiectasia Chronic diarrhea Abnormality of the face Fine hair Cutaneous photosensitivity Nail dysplasia Decreased antibody level in blood Microcornea Hyperkeratosis Erythroderma Babinski sign Microphthalmia Neoplasm Acute hyperammonemia Propionyl-CoA carboxylase deficiency Necrotizing encephalopathy Encephalomalacia Neutrophilia Hyperglycinuria Decreased plasma carnitine Organic aciduria Ketonuria Abnormality of the thorax Squamous cell carcinoma Hypoventilation Trichorrhexis nodosa Skin rash Irritability Aggressive behavior Hyperactivity Abnormal heart morphology Abnormality of cardiovascular system morphology Lack of subcutaneous fatty tissue Tiger tail banding Jerky ocular pursuit movements Abnormality of hair texture Titubation Corneal neovascularization Basal cell carcinoma Congenital nonbullous ichthyosiform erythroderma Pili torti Woolly hair Progeroid facial appearance Fragile nails IgG deficiency Alopecia of scalp Hyperactive deep tendon reflexes Keratoconjunctivitis sicca Congenital ichthyosiform erythroderma Freckling Decreased fertility Ketoacidosis Opisthotonus Coarctation of aorta Underdeveloped nasal alae Ventricular septal defect Frontal bossing Achilles tendon contracture Thick upper lip vermilion Brisk reflexes Short chin Narrow face Progressive microcephaly Broad-based gait Hypotelorism Esotropia Prominent nose Thrombocytopenia Thick eyebrow Smooth philtrum Prominent nasal bridge Short philtrum Blepharophimosis Telecanthus Motor deterioration Lack of skin elasticity Hypopigmentation of hair Self-injurious behavior Hypopigmentation of the skin Paraplegia Edema Polydactyly Hyperammonemia Giant platelets Progressive neurologic deterioration Dehydration Cyanosis Metabolic acidosis Hepatic steatosis Elevated hepatic transaminase Hypoglycemia Dilatation Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Median cleft palate Lower limb hypertonia Skeletal dysplasia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Acute lymphoblastic leukemia Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Recurrent otitis media Leukemia Umbilical hernia Abnormality of the cerebral white matter Spontaneous abortion Neurological speech impairment Micronodular cirrhosis Peripheral neuropathy Hypertension Visual impairment Ptosis Pain Muscle weakness Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Duplicated collecting system Optic atrophy Hemoglobinuria Breech presentation Developmental stagnation High anterior hairline Pierre-Robin sequence Epileptic spasms Central hypotonia Infantile spasms Prominent occiput Large for gestational age Overfolded helix Scaling skin Fever Gait disturbance Elevated alkaline phosphatase Gait ataxia Nyctalopia Abnormality of the pinna Feeding difficulties in infancy Hypertrophic cardiomyopathy Proteinuria Myalgia EEG abnormality Jaundice Dyspnea Hypothyroidism Weight loss Abdominal pain Respiratory insufficiency Diabetes mellitus Osteoporosis Dementia Rod-cone dystrophy Delayed skeletal maturation Arrhythmia Visual loss Renal insufficiency Diarrhea Blindness Cardiomyopathy Respiratory distress Redundant skin Deep philtrum Obsessive-compulsive behavior Microphakia Obesity Absent speech Malar flattening Short nose Atrial septal defect Cleft palate Micrognathia Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Prenatal maternal abnormality Posteriorly rotated ears Body odor Mood changes Abnormal posturing Generalized hypopigmentation Fair hair Blue irides Self-mutilation Poor coordination Iron deficiency anemia Scleroderma Hypoplastic left heart Malnutrition Patent ductus arteriosus Upslanted palpebral fissure Widely spaced teeth Gliosis Multicystic kidney dysplasia Tall stature Postnatal microcephaly Large fontanelles Hypsarrhythmia Limb undergrowth Overgrowth Microdontia Neuronal loss in central nervous system Epileptic encephalopathy Webbed neck Vesicoureteral reflux Sepsis Respiratory failure Downturned corners of mouth Wide nose Short distal phalanx of finger Hepatic failure Cirrhosis Wide mouth Abnormality of the eye Neonatal hypotonia Coarse facial features Polyhydramnios Narrow mouth Micropenis Abnormality of the septum pellucidum


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