Cognitive impairment, and Upslanted palpebral fissure

Diseases related with Cognitive impairment and Upslanted palpebral fissure

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


Top matches:

Medium match INTELLECTUAL DISABILITY-STRABISMUS SYNDROME


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

Medium match AUTOSOMAL DOMINANT PRIMARY MICROCEPHALY


Autosomal dominant primary microcephaly is a rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT PRIMARY MICROCEPHALY

Medium match AMELOCEREBROHYPOHIDROTIC SYNDROME


Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

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Other less relevant matches:

Medium 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

Medium match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Medium match EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME


PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME

Medium match 15Q13.3 MICRODELETION SYNDROME


15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Medium match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Medium match FEINGOLD SYNDROME 1; FGLDS1


Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.

FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FEINGOLD SYNDROME 1; FGLDS1

Top 5 symptoms//phenotypes associated to Cognitive impairment and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Upslanted palpebral fissure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Ventriculomegaly High palate Absent speech Hypertelorism Short stature Micrognathia Aggressive behavior Macrocephaly Malar flattening Spasticity Low-set ears Macrotia Scoliosis Prominent nasal bridge Posteriorly rotated ears Delayed speech and language development Hydrocephalus Epicanthus Prominent forehead Hyperactivity Sparse eyebrow Strabismus Failure to thrive

Rare Symptoms - Less than 30% cases


Metopic synostosis Developmental regression Facial asymmetry Smooth philtrum Polymicrogyria Hypsarrhythmia Cryptorchidism Mandibular prognathia Progressive neurologic deterioration Downslanted palpebral fissures Long face Facial hypotonia Cerebral cortical atrophy Cerebellar atrophy Depressed nasal bridge Hyperlordosis Kyphosis Clinodactyly Brachydactyly Frontal bossing Hypoplasia of the corpus callosum Abnormality of digit Protruding ear Hyperreflexia Overgrowth Broad thumb Triangular face Growth delay Myopia Hypertension Small forehead Cerebellar hypoplasia Thin upper lip vermilion Large hands Ataxia Esotropia Motor delay Slender build Intellectual disability, severe Anteverted nares Delayed myelination Encephalopathy Hypertonia Syringomyelia Arachnoid cyst Narrow nose Renal hypoplasia Short chin Arnold-Chiari type I malformation Aplasia/Hypoplasia of the corpus callosum Abnormality of the urinary system Overfolded helix Obsessive-compulsive behavior Cutis marmorata Absent septum pellucidum Pigmentary retinopathy Agenesis of corpus callosum Hip dysplasia Abnormality of the skeletal system Progressive spastic paraplegia Multiple cafe-au-lait spots Restlessness Distal lower limb amyotrophy Shuffling gait Furrowed tongue Diastema Alopecia areata Lower limb hypertonia Low frustration tolerance Talipes calcaneovarus Muscular hypotonia Short nose Urinary incontinence Dilatation Hernia Inguinal hernia Polydactyly Narrow mouth Jaundice Hydronephrosis Craniosynostosis Retinopathy Attention deficit hyperactivity disorder Broad forehead Thin vermilion border Vesicoureteral reflux Broad face Oral cleft Ureterocele Polysplenia Nephritis Tracheoesophageal fistula Short middle phalanx of finger 2-3 toe syndactyly Hallux valgus Prominent occiput Esophageal atresia External ear malformation Vocal cord paralysis Depressed nasal tip Short 5th finger Asplenia Narrow palpebral fissure Duodenal atresia Abnormality of the spleen Periorbital fullness Intestinal atresia Accessory spleen Frontal balding Aplasia of the middle phalanx of the hand Annular pancreas Small anterior fontanelle 4-5 toe syndactyly Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Aplasia/Hypoplasia of the middle phalanx of the 5th finger Abnormality of the hand Finger clinodactyly Intraventricular hemorrhage Finger syndactyly Craniofacial asymmetry Partial absence of the septum pellucidum Hearing impairment Sensorineural hearing impairment Wide nasal bridge Vomiting Renal insufficiency Syndactyly Patent ductus arteriosus Clinodactyly of the 5th finger Polyhydramnios Blepharophimosis Toe syndactyly Short toe Anal atresia Intellectual disability, progressive Thick vermilion border Everted lower lip vermilion Single transverse palmar crease Specific learning disability Decreased fetal movement Short palpebral fissure Choanal atresia Abnormal form of the vertebral bodies Short thumb Abnormal vertebral morphology Lower limb hyperreflexia CNS hypomyelination Decreased body weight Narrow face Coarse hair Amelogenesis imperfecta Abnormality of dental color Yellow-brown discoloration of the teeth Retrognathia Irritability Joint hypermobility Sleep disturbance Pachygyria Dental crowding Abnormal cortical bone morphology Hypohidrosis Almond-shaped palpebral fissure Gait ataxia Proptosis High forehead Kyphoscoliosis Pes planus Difficulty walking Joint laxity Arachnodactyly Abnormal cerebellum morphology High myopia Abnormality of dental enamel Hypoplasia of dental enamel Tall stature Oligodontia Behavioral abnormality Hypothyroidism Telecanthus Growth hormone deficiency Neurodevelopmental delay Nystagmus Abnormality of the nervous system Sloping forehead Hypotelorism Horizontal nystagmus Reduced number of teeth Cerebellar vermis hypoplasia Broad hallux Overbite Alternating esotropia Cerebral atrophy Dementia EEG abnormality Mental deterioration Severe global developmental delay Focal-onset seizure Epileptic encephalopathy Intellectual disability, profound Lumbar hyperlordosis Disproportionate tall stature Interphalangeal joint contracture of finger Camptodactyly of finger Tongue fasciculations Schizophrenia Bipolar affective disorder Talipes equinovarus Pectus excavatum Babinski sign Micropenis Autism Deeply set eye Intellectual disability, moderate Spastic paraplegia Chronic constipation Hypermetropia Poor speech Paraplegia Falls Short palm Short distal phalanx of finger High, narrow palate Short foot Tapered finger Hypoplasia of the maxilla Decreased testicular size Diffuse cerebral atrophy Atrophy/Degeneration affecting the brainstem Long fingers Elevated serum creatine phosphokinase Megalencephaly Long foot Communicating hydrocephalus Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Muscle weakness Feeding difficulties Skeletal muscle atrophy Optic atrophy Constipation Cortical gyral simplification Arthrogryposis multiplex congenita Neurodegeneration Tetraplegia Gliosis Neuronal loss in central nervous system Spastic tetraplegia Postnatal microcephaly Fasciculations Severe muscular hypotonia Widely spaced teeth Cortical dysplasia Deviation of the 2nd finger



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Ventricular septal defect, related diseases and genetic alterations Delayed speech and language development and Rigidity, related diseases and genetic alterations Ptosis and Agenesis of corpus callosum, related diseases and genetic alterations Anemia and Elevated serum creatine phosphokinase, related diseases and genetic alterations Microcephaly and Broad nasal tip, related diseases and genetic alterations Seizures and Situs inversus totalis, related diseases and genetic alterations

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