Cognitive impairment, and Abdominal distention

Diseases related with Cognitive impairment and Abdominal distention

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Abdominal distention that can help you solving undiagnosed cases.

Top matches:

Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL SHORT BOWEL SYNDROME

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 gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM Is also known as arylsulfatase a deficiency, juvenile form|mld, juvenile form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM

Other less relevant matches:

METACHROMATIC LEUKODYSTROPHY, ADULT FORM Is also known as arylsulfatase a deficiency, adult form|mld, adult form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, ADULT FORM

HYPERLIPOPROTEINEMIA, TYPE I Is also known as lpl deficiency|hyperchylomicronemia, familial|lipase d deficiency|lipd deficiency|lipoprotein lipase deficiency|hyperlipemia, essential familial|chylomicronemia, familial|hyperlipemia, idiopathic, burger-grutz type|hyperlipoproteinemia, type ia

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Pain
  • Anemia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE I

The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis (OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.

METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM Is also known as sulfatide lipidosis|arsa deficiency|mld, late infantile form|arylsulfatase a deficiency|cerebroside sulfatase deficiency|metachromatic leukoencephalopathy|arylsulfatase a deficiency, late infantile form|cerebral sclerosis, diffuse, metachromatic form

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM

Medium match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Medium match PRUNE BELLY SYNDROME

Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Top 5 symptoms//phenotypes associated to Cognitive impairment and Abdominal distention

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Developmental regression Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cognitive impairment and Abdominal distention. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Dysarthria Splenomegaly Spasticity Leukodystrophy Increased CSF protein Diarrhea Pain Punctate periventricular T2 hyperintense foci Frequent falls Elevated hepatic transaminase Optic atrophy Dystonia Hyporeflexia Babinski sign Reduced visual acuity Urinary incontinence Abdominal pain Bilateral sensorineural hearing impairment Clumsiness Hallucinations Abnormal social behavior Memory impairment Decreased nerve conduction velocity Emotional lability Peripheral neuropathy Abnormality of visual evoked potentials Abnormality of proteoglycan metabolism Delusions Progressive gait ataxia Vegetative state Progressive peripheral neuropathy Cholecystitis EMG: chronic denervation signs Decerebrate rigidity Protuberant abdomen Loss of speech Global developmental delay Hepatosplenomegaly Anemia Intellectual disability Vomiting Ataxia Hepatomegaly

Rare Symptoms - Less than 30% cases

Rigidity Aganglionic megacolon Abnormality of glycosphingolipid metabolism Constipation Chronic diarrhea Progressive psychomotor deterioration Hemivertebrae Behavioral abnormality Malnutrition Intestinal malrotation Chorea Depressivity Myopathy Abnormality of the mitochondrion Schizophrenia Coarse facial features Hyperactivity Episodic abdominal pain Malabsorption Areflexia Gastroesophageal reflux Scoliosis Pallor Steatorrhea Short attention span Volvulus Hyperreflexia Ophthalmoplegia Progressive neurologic deterioration Peripheral demyelination Bulbar signs Synophrys Nausea Gastroparesis Polyneuropathy Dysphagia Hearing impairment Neurodegeneration Intention tremor Abnormality of the cerebral white matter Dysostosis multiplex Hirsutism Urethral stenosis Cervical ribs Aplasia of the musculature Aplasia of the abdominal wall musculature Retinal degeneration Dilatation of the bladder Congenital posterior urethral valve Abdominal wall defect Fetal ascites Prune belly Cerebellar atrophy Abnormality of the bladder Dysmetria Joint stiffness Megacystis Tremor Aggressive behavior Urethral obstruction Urogenital sinus anomaly Short stature Intestinal atresia Abnormality of the ribs Pectus excavatum Patent ductus arteriosus Abnormal heart morphology Recurrent respiratory infections Hydronephrosis Pectus carinatum Hip dislocation Anal atresia Ascites Vesicoureteral reflux Abnormality of the skin Decreased testicular size Tetralogy of Fallot Oligohydramnios Epistaxis Miosis Vertebral segmentation defect Abnormality of the uterus 11 pairs of ribs Aplasia/Hypoplasia of the lungs Xerostomia Abnormality of the ureter Decreased fertility Hydroureter Recurrent urinary tract infections Bilateral cryptorchidism Abnormality of the urinary system Cutis laxa Multicystic kidney dysplasia Congenital hip dislocation Telangiectasia Sleep disturbance Polycystic ovaries Cardiomegaly Gastrointestinal dysmotility Ophthalmoparesis Decreased motor nerve conduction velocity Decreased muscle mass Difficulty climbing stairs Axonal degeneration Scleroderma Poor appetite Mitochondrial myopathy Progressive external ophthalmoplegia Abnormality of the vasculature Abnormality of the gastrointestinal tract Slender build Absent Achilles reflex Demyelinating peripheral neuropathy Skeletal myopathy Bilateral ptosis Multiple mitochondrial DNA deletions Abnormality of the extraocular muscles Abnormal cell morphology Atrophic muscularis propria Hypointensity of cerebral white matter on MRI Intestinal perforation Subsarcolemmal accumulations of abnormally shaped mitochondria Diffuse leukoencephalopathy Decreased number of large peripheral myelinated nerve fibers Decreased sensory nerve conduction velocity Macrovesicular hepatic steatosis Cytochrome C oxidase-negative muscle fibers Intermittent diarrhea Hyperalaninemia Intestinal pseudo-obstruction Abnormality of mitochondrial metabolism Abnormality of the hand Limb ataxia Sensorineural hearing impairment Distal muscle weakness Proximal muscle weakness Acidosis Weight loss Skeletal muscle atrophy Ptosis Dense calvaria Limb muscle weakness Ovoid thoracolumbar vertebrae Thickened ribs Heparan sulfate excretion in urine Asymmetric septal hypertrophy Coarse hair Recurrent upper respiratory tract infections Muscular dystrophy Abnormality of eye movement Cachexia Hypergonadotropic hypogonadism Renal insufficiency Easy fatigability Ragged-red muscle fibers Leukoencephalopathy External ophthalmoplegia Hypogonadotrophic hypogonadism Foot dorsiflexor weakness Paresthesia Sensorimotor neuropathy Distal sensory impairment Distal amyotrophy Cirrhosis Lactic acidosis Peripheral axonal neuropathy Dilatation Gallbladder dysfunction Atrial septal defect Back pain Hyperhidrosis Jaundice Irritability Retinopathy Skin rash Nausea and vomiting Hepatic steatosis Hypertriglyceridemia Pancreatitis Atherosclerosis Hyperlipidemia Hypercholesterolemia EMG: myopathic abnormalities Glucose intolerance Growth delay Peripheral arterial stenosis Acanthocytosis Peritonitis Impaired proprioception Foam cells Precocious atherosclerosis Hypocholesterolemia Hyperlipoproteinemia Chills Acute pancreatitis Hypersplenism Intestinal bleeding Chronic pancreatitis Visual impairment Neoplasm of the gallbladder Recurrent pancreatitis Strabismus Hypotrichosis Hepatic failure Sepsis Increased body weight Pyloric stenosis Dextrocardia Lipoatrophy Absent hand Displacement of the external urethral meatus Congenital shortened small intestine Intestinal hypoplasia Decreased intestinal transit time Abnormal peristalsis Feeding difficulties Orthostatic hypotension due to autonomic dysfunction Respiratory distress Cerebral atrophy Thrombocytopenia Respiratory failure Apnea Esotropia Aspiration Oculomotor apraxia Trismus Recurrent aspiration pneumonia Difficulty walking Bowel incontinence Progressive spastic quadriplegia Eruptive xanthomas Lipemia retinalis Talipes equinovarus Sleep apnea Long philtrum Abnormality of metabolism/homeostasis Inguinal hernia Prominent forehead Thin upper lip vermilion Attention deficit hyperactivity disorder Smooth philtrum Joint hypermobility High, narrow palate Macroglossia Low posterior hairline Hoarse voice Generalized hirsutism Hyperkinesis Frontal bossing Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Hypoplastic nipples Upper airway obstruction Prolonged partial thromboplastin time Periorbital fullness Prolonged prothrombin time Long hallux Spinal deformities Expressive language delay Cryptorchidism Ventricular septal defect Intellectual disability, mild Macrocephaly Increased circulating chylomicron concentration Brain atrophy Pancreatic calcification Increased hepatocellular lipid droplets Abnormality of vitamin metabolism Lactescent serum Muscular hypotonia Gait disturbance Gait ataxia Abnormality of the nervous system Mental deterioration Feeding difficulties in infancy Unsteady gait Confusion Tetraplegia Optic disc pallor Wide nasal bridge Spastic tetraplegia Shock Apathy Personality changes Toe walking Bulbar palsy Onion bulb formation EMG: neuropathic changes Genu recurvatum Hypertelorism Abnormal facial shape Low-set ears High palate Epicanthus Small intestinal dysmotility


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