Cognitive impairment, and Epicanthus

Diseases related with Cognitive impairment and Epicanthus

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

Top matches:

Related symptoms:

  • Abnormal facial shape
  • Cognitive impairment
  • Feeding difficulties
  • Epicanthus
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

Other less relevant matches:

Low match WEST SYNDROME

West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Low match CK SYNDROME

CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.

CK SYNDROME Is also known as x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|mental retardation, x-linked, with thin body habitus and cortical malformation

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CK SYNDROME

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 3; JBTS3

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Generalized hypotonia Microcephaly Encephalopathy Abnormality of the liver Micrognathia Status epilepticus Spasticity Ventriculomegaly Strabismus Downslanted palpebral fissures Hypertelorism Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Kyphoscoliosis Anteverted nares High palate Pigmentary retinopathy Visual impairment Macrotia Developmental regression Chorea Epileptic encephalopathy Scaphocephaly Hemiparesis Cerebellar vermis hypoplasia Ptosis Frontal bossing Delayed speech and language development Macrocephaly Craniosynostosis Posteriorly rotated ears Ventricular septal defect Polymicrogyria Deep philtrum Abnormality of the dentition Dystonia Irritability Short stature Hypertonia Vomiting Prominent forehead Upslanted palpebral fissure Hyperactivity Aggressive behavior Delayed myelination Retinal dystrophy Apraxia Cystic hygroma Sagittal craniosynostosis Myeloproliferative disorder Hypoplastic nasal bridge Juvenile myelomonocytic leukemia Atrial septal dilatation Renal dysplasia Open mouth Dysplastic pulmonary valve Stage 5 chronic kidney disease Nystagmus Feeding difficulties Muscular hypotonia Mitral valve prolapse Highly arched eyebrow Wide nasal bridge Renal insufficiency Polydactyly Coloboma Pterygium Dolichocephaly Webbed neck Almond-shaped palpebral fissure Joint hypermobility Lactic acidosis Sleep disturbance Pachygyria Dental crowding Narrow face Abnormality of digit Abnormal cortical bone morphology Slender build Elevated hepatic transaminase Pulmonic stenosis Hypoglycemia Acidosis Atrial septal defect Short nose Pectus excavatum Patent ductus arteriosus Polyhydramnios Hypertrophic cardiomyopathy Leukemia Oculomotor apraxia Truncal ataxia Nephronophthisis Abnormal electroretinogram Intention tremor Nausea Cirrhosis Distal sensory impairment Sensory neuropathy Polyneuropathy Coma Sensory impairment Migraine Type II diabetes mellitus Cholestasis Unsteady gait Sensorimotor neuropathy Hypergonadotropic hypogonadism Bilateral single transverse palmar creases Paraparesis Spastic paraparesis Apathy Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Fat malabsorption Peripheral axonal neuropathy Confusion Molar tooth sign on MRI Peripheral neuropathy Prominent nasal bridge Delayed ability to walk Retinal coloboma Central apnea Episodic tachypnea Elongated superior cerebellar peduncle Neonatal breathing dysregulation Enlarged fossa interpeduncularis Cataract Hepatomegaly Retinopathy Dysarthria Optic atrophy Tremor Headache Depressivity Rod-cone dystrophy Hypogonadism Gait ataxia Photophobia Mental deterioration Long face Retrognathia Metabolic acidosis Hyperkinesis Generalized myoclonic seizures Brain atrophy Hypsarrhythmia Intellectual disability, profound Tetraparesis Choreoathetosis Progressive microcephaly Spastic tetraparesis Lissencephaly Global brain atrophy Poor speech Infantile spasms Muscle fibrillation Epileptic spasms Developmental stagnation Spastic ataxia Abnormality of skin morphology Hearing impairment Behavioral abnormality Failure to thrive Growth delay Dyskinesia Muscular hypotonia of the trunk Coarse facial features Esotropia Hypoplasia of the corpus callosum Cerebellar hypoplasia Cerebral cortical atrophy Neurodevelopmental delay Thin upper lip vermilion Growth hormone deficiency Generalized tonic-clonic seizures Smooth philtrum Inability to walk Focal-onset seizure Abnormality of the nervous system Febrile seizures Telecanthus Limb hypertonia Hypothyroidism Hyperreflexia Dysphagia Intellectual disability, severe Myoclonus Micropenis Dyspnea Increased serum pyruvate EEG abnormality Hyperlordosis Sparse eyebrow Abnormality of the kidney Poor suck Sparse hair Hematuria Ectodermal dysplasia Dandy-Walker malformation Hyperammonemia Sparse eyelashes Trigonocephaly Nephritis Abnormality of mitochondrial metabolism Hypoplastic toenails Tachypnea Tubulointerstitial nephritis Posterior fossa cyst Scoliosis Decreased liver function Kyphosis Malar flattening Increased serum lactate Absent speech Proteinuria Abnormality of coagulation Wide mouth Gingival overgrowth Synophrys Bulbous nose Thick eyebrow Hirsutism Thick vermilion border Delayed eruption of teeth Overgrowth Hypertrichosis Depressed nasal ridge Low anterior hairline Congenital, generalized hypertrichosis Generalized hirsutism Widely spaced teeth Relative macrocephaly Ketosis Peritonitis Gingival fibromatosis Wide nasal base Thick nasal alae Generalized hypertrichosis Thoracic kyphoscoliosis Biliary tract abnormality


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