Cognitive impairment, and Hernia

Diseases related with Cognitive impairment and Hernia

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


Top matches:

Low match DENT DISEASE TYPE 2


Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.

DENT DISEASE TYPE 2 Is also known as nephrolithiasis type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Cognitive impairment
  • Intellectual disability, mild


SOURCES: ORPHANET OMIM MENDELIAN

More info about DENT DISEASE TYPE 2

Low match OROFACIODIGITAL SYNDROME XVI; OFD16


OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

Low match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


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

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Other less relevant matches:

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Low match AMISH INFANTILE EPILEPSY SYNDROME


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

Low 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

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Low match GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

Low match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hernia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Coarse facial features Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Inguinal hernia Macrocephaly Depressed nasal bridge Motor delay Muscular hypotonia Generalized hypotonia Scoliosis Umbilical hernia Short stature Hepatosplenomegaly Inability to walk Splenomegaly Hirsutism Intellectual disability, mild Intellectual disability, severe Dysostosis multiplex Mandibular prognathia Hearing impairment Low-set ears Abnormal facial shape Hypertelorism Macroglossia

Rare Symptoms - Less than 30% cases


Cerebral cortical atrophy Anemia Growth delay Thick vermilion border Choreoathetosis Cardiomyopathy Dilatation Hypertrichosis Joint laxity Hoarse voice Everted lower lip vermilion Elevated hepatic transaminase High pitched voice Joint hypermobility Synophrys Hyperactivity Long philtrum High palate Visual loss Myoclonus Developmental regression Gingival overgrowth Prominent forehead Skeletal dysplasia Progressive neurologic deterioration Cryptorchidism Retrognathia Ventriculomegaly Ataxia Elevated serum creatine phosphokinase Flexion contracture Increased susceptibility to fractures Aortic aneurysm Low posterior hairline Generalized hirsutism Sleep apnea Hyperkinesis Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Premature ovarian insufficiency Hypoplastic nipples Protuberant abdomen Episodic abdominal pain Upper airway obstruction Kyphoscoliosis Prolonged partial thromboplastin time Periorbital fullness Memory impairment Prolonged prothrombin time Long hallux Spinal deformities Expressive language delay Dysphagia Respiratory tract infection Diarrhea Behavioral abnormality Rod-cone dystrophy Abnormality of the mitochondrion Smooth philtrum High, narrow palate Hyporeflexia of upper limbs Cerebral visual impairment Loss of consciousness Global brain atrophy Hypermelanotic macule Lower limb hyperreflexia Upper eyelid edema Abnormal retinal morphology Abnormal lip morphology Irregular dentition Urethral stenosis Developmental stagnation Multifocal epileptiform discharges Developmental stagnation at onset of seizures Prolonged bleeding time Pain Eclabion Epicanthus Wide nasal bridge Frontal bossing Generalized osteoporosis Abnormality of metabolism/homeostasis Abnormality of the vasculature Palpebral edema Abdominal pain Abnormality of the sternum Thin upper lip vermilion Attention deficit hyperactivity disorder Joint stiffness Pes planus Dolichocephaly Visceromegaly Abnormal vertebral morphology Thick lower lip vermilion High myopia Narrow forehead Overgrowth Opacification of the corneal stroma Aortic regurgitation Hemangioma Spondyloepiphyseal dysplasia Abnormality of the vertebral column Nonimmune hydrops fetalis Foam cells Single transverse palmar crease Hemophagocytosis Sparse scalp hair Conjunctival telangiectasia Vacuolated lymphocytes Bruising susceptibility Mucopolysacchariduria Angiokeratoma Arthralgia of the hip Cherry red spot of the macula Decreased beta-galactosidase activity Brachydactyly Downslanted palpebral fissures Ichthyosis Alopecia Sparse hair Osteoporosis Hydrops fetalis Decreased body weight Hypogonadism Dense calvaria Hyperextensible skin Cutis laxa Sleep disturbance Growth abnormality Coarse hair Recurrent upper respiratory tract infections Restlessness Loss of speech Motor deterioration Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Ovoid thoracolumbar vertebrae Hypergonadotropic hypogonadism Telangiectasia Cellular metachromasia Edema Thrombocytopenia Severe short stature Sparse and thin eyebrow Arthralgia Abnormality of the nervous system Mental deterioration Abnormality of the kidney Corneal opacity Bronchiectasis Tetraparesis Ascites Cardiomegaly Redundant skin Generalized muscular appearance from birth Status epilepticus Basal ganglia calcification Difficulty walking Deeply set eye Aggressive behavior Protruding ear Wide mouth Long face Neurodegeneration Prominent nose Dandy-Walker malformation Cerebral calcification Narrow face Pointed chin Self-injurious behavior Aplasia/Hypoplasia of the cerebellum High-frequency hearing impairment Gait ataxia Abnormality of the basal ganglia Talipes equinovarus Anteverted nares Delayed skeletal maturation Constipation Hypothyroidism Intellectual disability, moderate Hip dislocation Dry skin Flat face Delayed eruption of teeth Limb undergrowth Broad-based gait Omphalocele High forehead Dementia Increased body weight Retinopathy Acidosis Proteinuria Metabolic acidosis Nephrocalcinosis Aminoaciduria Chronic kidney disease Hypercalciuria Renal tubular acidosis Proximal tubulopathy Low-molecular-weight proteinuria Ptosis Ventricular septal defect Polydactyly Apnea Postaxial polydactyly Cerebellar hypoplasia Intestinal malrotation Short palpebral fissure Heterotopia Oculomotor apraxia Molar tooth sign on MRI Hamartoma Teratoma Hamartoma of tongue Sacrococcygeal teratoma Strabismus Sensorineural hearing impairment Spasticity Hyperreflexia Hydrocephalus Clumsiness Congenital hip dislocation Generalized-onset seizure Failure to thrive Bone cyst Thick hair Acute pancreatitis Generalized lipodystrophy Decreased fertility in females Congenital generalized lipodystrophy Decreased serum leptin Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Labial hypertrophy Reduced intrathoracic adipose tissue Cystic angiomatosis of bone Microcephaly Nystagmus Feeding difficulties Lipoatrophy Visual impairment Optic atrophy Blindness Vomiting Hypertonia Midface retrusion Absent speech Feeding difficulties in infancy Irritability Pallor Generalized tonic-clonic seizures Retinal degeneration Abnormality of skin pigmentation Increased serum lactate Long foot Decreased fertility Wormian bones Triangular face Coxa vara Hypercholesterolemia Relative macrocephaly Congenital hypothyroidism Drowsiness Long thorax Thyroid hormone receptor defect No permanent dentition Increased T3/T4 ratio Hypertension Macrotia Hypertrophic cardiomyopathy Cirrhosis Hepatic steatosis Epidermal acanthosis Polyphagia Hypertriglyceridemia Abnormality of the genital system Nephrolithiasis Tall stature Insulin resistance Accelerated skeletal maturation Acanthosis nigricans Pancreatitis Polycystic ovaries Lipodystrophy Hyperinsulinemia Clitoral hypertrophy Large hands Skeletal muscle hypertrophy Infra-orbital fold



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