Microcephaly, and Schizophrenia

Diseases related with Microcephaly and Schizophrenia

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

Top matches:

Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Behavioral abnormality
  • Depressivity
  • Dementia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA; SCZD

MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Other less relevant matches:

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

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

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Microcephaly and Schizophrenia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microcephaly and Schizophrenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Anxiety

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus

Common Symptoms - More than 50% cases

Behavioral abnormality

Uncommon Symptoms - Between 30% and 50% cases

Bipolar affective disorder Muscular hypotonia Strabismus Cataract Inguinal hernia High palate Generalized hypotonia Abnormal facial shape Depressivity Psychosis Thrombocytopenia Bulbous nose Hypoplasia of the corpus callosum Autism Hypertelorism Hearing impairment Chorea Atrial septal defect Truncus arteriosus Attention deficit hyperactivity disorder Specific learning disability Tetralogy of Fallot Hyperactivity Cognitive impairment Patent ductus arteriosus Cholelithiasis Intellectual disability, mild Talipes equinovarus Mental deterioration Arthritis Umbilical hernia Intrauterine growth retardation Spina bifida Hypocalcemia Hypertonia Ventricular septal defect Hypospadias Nasal speech Short neck Immunodeficiency Purpura Abnormality of cardiovascular system morphology Acne Dementia Macrocephaly Hypothyroidism Obesity Frontal bossing Posterior embryotoxon Hypoparathyroidism Aggressive behavior Telecanthus Epicanthus Microphthalmia Mood swings Joint hyperflexibility Hallucinations Delayed speech and language development Intellectual disability, severe Autoimmunity Impaired T cell function Vesicoureteral reflux Cryptorchidism Interrupted aortic arch Failure to thrive Open mouth Seborrheic dermatitis Meningocele Cleft palate

Rare Symptoms - Less than 30% cases

Fever Blepharophimosis Abnormality of the pinna Anemia Conductive hearing impairment Wide nasal bridge Retrognathia Long philtrum Broad thumb Hydronephrosis Recurrent infections Posteriorly rotated ears Joint hypermobility Foot polydactyly Abnormal heart morphology Broad hallux Hand polydactyly Coarctation of aorta Iris coloboma Abnormal aortic valve morphology Anal atresia Retinal vascular tortuosity Juvenile rheumatoid arthritis Aplasia of the uterus Graves disease Perimembranous ventricular septal defect Platybasia Right aortic arch Duodenal stenosis Ptosis Low-set ears Conotruncal defect Aplasia of the thymus Arteria lusoria Right aortic arch with mirror image branching Sacral meningocele Optic atrophy Downslanted palpebral fissures Micrognathia Myelomeningocele Narrow mouth Hemolytic anemia Arnold-Chiari malformation Bifid uvula Renal agenesis Amenorrhea Low posterior hairline Primary amenorrhea Renal dysplasia Bicuspid aortic valve Rheumatoid arthritis Short philtrum Feeding difficulties in infancy Inflammation of the large intestine Autoimmune hemolytic anemia Autoimmune thrombocytopenia Sensorineural hearing impairment Vitiligo Hypoplasia of the thymus Tetany Psoriasiform dermatitis Unilateral renal agenesis Bradykinesia Glaucoma Abnormality of extrapyramidal motor function Anteverted nares Dysmetria Upslanted palpebral fissure Neurological speech impairment Macrotia Dysdiadochokinesis Delusions Abnormality of neuronal migration Ventriculomegaly Rigidity Gait disturbance Basal ganglia calcification Gastroesophageal reflux Autistic behavior Dyskinesia Alcoholism Intellectual disability, moderate Rectal prolapse Delayed closure of the anterior fontanelle Increased body weight Pseudoepiphyses of the metacarpals Akinesia Myelopathy Neoplasm Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Advanced eruption of teeth Hyperextensibility of the finger joints Premature loss of primary teeth Stooped posture Abnormal diaphysis morphology Retinoschisis Thick nasal alae Narrow iliac wings Lumbar kyphosis Broad finger Abnormal tricuspid valve morphology Hyperconvex fingernails Bifid sternum Abnormal mitral valve morphology Uterine prolapse Cataplexy Craniofacial hyperostosis Focal motor seizures Restrictive cardiomyopathy Decreased body weight Widely spaced teeth Cutis laxa Narrow palate Coxa valga Abnormality of the hair Wide anterior fontanel Abnormality of retinal pigmentation Mitral regurgitation Sleep apnea Abnormal form of the vertebral bodies Thick lower lip vermilion Cerebellar vermis hypoplasia Dental malocclusion Short metacarpal Tetraplegia Hypoplasia of the maxilla Hypodontia Aplasia/Hypoplasia of the corpus callosum Coarse hair Hypoplastic fingernail Abnormality of digit Acrocyanosis Severe sensorineural hearing impairment Spinal canal stenosis Anteriorly placed anus Atonic seizures Thickened calvaria Broad palm Progressive spasticity Redundant skin Loss of consciousness Emphysema Cutis marmorata Large hands Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Self-injurious behavior Prominent supraorbital ridges Soft skin Craniosynostosis Flexion contracture Chronic otitis media Patellar dislocation Turricephaly Abnormal lung lobation Hyperthyroidism Bowel incontinence Dysphasia Overfolded helix Abnormality of the skull Abnormality of the thorax Polycystic kidney dysplasia Laryngomalacia Hypopigmented skin patches Abnormality of dental enamel Aganglionic megacolon Choanal atresia Multiple renal cysts Abnormal eyelid morphology Gastrointestinal hemorrhage Abnormal pulmonary valve morphology Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Arrhinencephaly Varicose veins Small earlobe Abnormality of the pharynx Abnormal thrombocyte morphology Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Renal hypoplasia Intestinal malrotation Cleft lip Short palpebral fissure Femoral hernia EEG abnormality Anterior segment developmental abnormality Sclerocornea Exotropia Amblyopia High, narrow palate Abnormality of the middle ear Polymicrogyria Astigmatism Generalized tonic-clonic seizures Microtia Small for gestational age Single transverse palmar crease Abnormality of the kidney Perisylvian polymicrogyria Abnormality of the thymus Asthma Malar flattening Long face Arachnodactyly Carious teeth Prominent nasal bridge Myalgia Polyhydramnios Constipation Splenomegaly Vascular tortuosity Abnormality of the dentition Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Delayed eruption of teeth Severe global developmental delay Tapered finger Postural instability Paralysis Abnormality of the liver Abnormal pyramidal sign Corneal opacity Abnormality of movement Vertigo Abnormal cerebellum morphology Congenital cataract Hernia Absent speech Parkinsonism Gliosis Urinary incontinence Cerebellar atrophy Memory impairment Gait ataxia Pulmonic stenosis Cerebral calcification Hyperreflexia Motor delay Hypertension Holoprosencephaly Hepatomegaly Narrow palpebral fissure Multicystic kidney dysplasia Dysarthria Encephalopathy Tremor Fatigue Peripheral demyelination Dysphagia Underdeveloped nasal alae Dystonia Headache Neuronal loss in central nervous system Progressive neurologic deterioration Pain Focal dystonia Lewy bodies Deeply set eye Agenesis of corpus callosum Clinodactyly of the 5th finger Abnormal lower motor neuron morphology Calcinosis Orofacial dyskinesia Abnormal cardiac septum morphology Pseudohypoparathyroidism Subcutaneous hemorrhage Limb dysmetria Dense calcifications in the cerebellar dentate nucleus Calcification of the small brain vessels Pill-rolling tremor Progressive choreoathetosis Joint laxity Toe syndactyly Choreoathetosis Transposition of the great arteries Broad-based gait Ankyloglossia Clumsiness Broad hallux phalanx Muscle stiffness Slurred speech High hypermetropia Frontotemporal dementia Oral-pharyngeal dysphagia Emotional lability Athetosis Mask-like facies Sleep disturbance Short foot Progressive encephalopathy Abnormality of the hand Ataxia Highly arched eyebrow Skeletal muscle atrophy Pectus excavatum Kyphosis Congestive heart failure Cardiomyopathy Abnormality of the skeletal system Preeclampsia Brachydactyly Cerebral cortical atrophy Peripheral neuropathy Depressed nasal bridge Muscle weakness Growth delay Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Borderline personality disorder Delayed skeletal maturation Mandibular prognathia Congenital conductive hearing impairment Micrographia Everted lower lip vermilion Thick vermilion border Wide nose Short distal phalanx of finger Thick eyebrow Dilated cardiomyopathy Pectus carinatum Kyphoscoliosis Wide mouth Protruding ear Hyperlordosis Alzheimer disease Neurofibrillary tangles Pes planus Coarse facial features Auditory hallucinations Perineal fistula Constrictive median neuropathy Abnormality of the ear Long ear Hearing abnormality Spasticity Anal stenosis Submucous cleft hard palate Axonal loss Myopathic facies Short attention span Hip dislocation Hypoplasia of the brainstem Arthrogryposis multiplex congenita Hip dysplasia Obsessive-compulsive behavior Apathy Relative macrocephaly Pierre-Robin sequence Echolalia Vascular ring Paranoia Central nervous system degeneration Mania Personality disorder Psychotic episodes Social and occupational deterioration Velopharyngeal insufficiency Giant platelets Short nose Abnormality of the endocrine system Thin upper lip vermilion Flat face Drooling Delayed gross motor development Agitation Restlessness Pulmonary artery atresia Occipital myelomeningocele


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