Cognitive impairment, and Prominent forehead

Diseases related with Cognitive impairment and Prominent forehead

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


Top matches:

Medium match SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME


Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

Medium match HYDROCEPHALUS, CONGENITAL, 1; HYC1


Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

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

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Other less relevant matches:

Medium match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Medium match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY 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

Medium match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA 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 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

Medium match CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY


Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Cognitive impairment and Prominent forehead

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

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

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Hypertelorism Ventriculomegaly Scoliosis Cerebellar hypoplasia Gait ataxia Intellectual disability, severe Macrocephaly Strabismus Ataxia Low-set ears Spasticity Delayed speech and language development Cerebellar atrophy Abnormal cerebellum morphology Hydrocephalus Cerebral cortical atrophy Downslanted palpebral fissures Mandibular prognathia Deeply set eye Muscular hypotonia Long face

Rare Symptoms - Less than 30% cases


Prominent nose Triangular face Thick vermilion border Tremor High palate Narrow forehead Nystagmus Macrotia Focal-onset seizure Absent speech Hyperreflexia Myopia Cerebellar vermis hypoplasia Anteverted nares Cerebral visual impairment Neoplasm Sparse eyebrow Difficulty walking Kyphoscoliosis High forehead Delayed myelination Apraxia Dandy-Walker malformation Cryptorchidism Inability to walk Dysmetria Poor speech EEG abnormality Motor delay Frontal bossing Short stature Poor eye contact Aggressive behavior Thin upper lip vermilion Dilatation Long foot Communicating hydrocephalus Prominent supraorbital ridges Pointed chin Microcephaly Tall stature Epicanthus Cerebral calcification Overgrowth Blindness Wide nasal bridge Upslanted palpebral fissure Proptosis Hyperactivity Hyperlordosis Microphallus Progressive microcephaly Prominent nasal bridge Stereotypy Arachnodactyly Disorganization of the anterior cerebellar vermis Spastic tetraparesis High myopia Enlarged cisterna magna Lumbar hyperlordosis Large hands Disproportionate tall stature Long fingers Megalencephaly Joint laxity Pes planus Abnormality of the philtrum Loss of consciousness Infra-orbital crease Infantile spasms Thoracolumbar kyphoscoliosis Posteriorly rotated ears Hyperventilation Slender build Developmental stagnation Mood swings Malar flattening Multifocal seizures Retrocerebellar cyst Infantile encephalopathy Kyphosis Bruxism Postnatal microcephaly Metopic synostosis Aplasia/Hypoplasia of the cerebellum Broad forehead Protruding ear Wide mouth Neurodegeneration Developmental regression Long nose Narrow face Self-injurious behavior Basal ganglia calcification Short palm High-frequency hearing impairment Abnormality of the basal ganglia Intellectual disability, mild Cerebral atrophy Encephalopathy Constipation Myoclonus Gastroesophageal reflux Severe global developmental delay Small hand Expressive language delay Sensorineural hearing impairment Respiratory failure Long neck Thick corpus callosum Tetraparesis Severe expressive language delay Thick lower lip vermilion Hypsarrhythmia Intellectual disability, profound Sloping forehead Coarse facial features Flexion contracture Epileptic encephalopathy Generalized myoclonic seizures Sleep disturbance Inguinal hernia Tapered finger Dementia Short foot Choreoathetosis Hematuria External genital hypoplasia Telecanthus Hydranencephaly Intraventricular hemorrhage Normal pressure hydrocephalus Growth delay Failure to thrive Behavioral abnormality Hypothyroidism Esotropia Aqueductal stenosis Growth hormone deficiency Neurodevelopmental delay Feeding difficulties Dysphagia Abnormality of the skeletal system Short neck Atrial septal defect Pectus carinatum Dilated fourth ventricle Arnold-Chiari malformation Pulmonic stenosis Fragile skin Ptosis Depressivity Anxiety Progressive neurologic deterioration Thin skin Hallucinations Hyperextensible skin Narrow nasal bridge Thoracolumbar scoliosis Spontaneous abortion Xanthelasma Auditory hallucinations Vomiting Headache Mental deterioration Irritability Stroke Polymicrogyria Dolichocephaly Webbed neck Focal impaired awareness seizure Micropenis Sparse eyelashes Trigonocephaly Nephritis Hypoplastic toenails Scaphocephaly Tubulointerstitial nephritis Posterior fossa cyst Autism Sparse hair Neonatal hypotonia Intellectual disability, moderate Attention deficit hyperactivity disorder Short philtrum Neurological speech impairment Hypotelorism Intention tremor Scrotal hypoplasia Ectodermal dysplasia Craniosynostosis Hyperpigmentation of the skin Unsteady gait Poor suck Mild short stature Thickened helices Visual impairment Dysarthria Optic atrophy Osteoporosis Osteopenia Hip dysplasia Abnormality of the kidney Generalized-onset seizure Status epilepticus Infantile muscular hypotonia Brisk reflexes Micrognathia Ventricular septal defect Abnormality of the dentition Proteinuria EEG with generalized slow activity



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