Delayed speech and language development, and Schizophrenia

Diseases related with Delayed speech and language development and Schizophrenia

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


Top matches:

High match AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Seizures
  • Nevus
  • Delayed speech and language development
  • Tics
  • Autism


SOURCES: UMLS OMIM MONDO

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5

High match MENTAL RETARDATION, X-LINKED 30; MRX30

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 UMLS MONDO

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

High match HYPERPROLINEMIA, TYPE I; HYRPRO1

Phang et al. (2001) noted that prospective studies of HPI probands identified through newborn screening as well as reports of several families have suggested that it is a metabolic disorder not clearly associated with clinical manifestations. Phang et al. (2001) concluded that HPI is a relatively benign condition in most individuals under most circumstances. However, other reports have suggested that some patients have a severe phenotype with neurologic manifestations, including epilepsy and mental retardation (Jacquet et al., 2003). Genetic Heterogeneity of HyperprolinemiaSee also hyperprolinemia type II (HYRPRO2 ), which is caused by mutation in the gene encoding pyrroline-5-carboxylate dehydrogenase (P5CDH, ALDH4A1; {606811}) on chromosome 1p36.

HYPERPROLINEMIA, TYPE I; HYRPRO1 Is also known as hpi, proline oxidase deficiency;proline oxidase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM MONDO UMLS ORPHANET SCTID

More info about HYPERPROLINEMIA, TYPE I; HYRPRO1

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Other less relevant matches:

High match HUNTINGTON DISEASE; HD

Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.

HUNTINGTON DISEASE; HD Is also known as huntington chorea;huntington chorea

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Pica
  • Ataxia
  • Cognitive impairment


SOURCES: ORPHANET OMIM UMLS ICD10 SCTID

More info about HUNTINGTON DISEASE; HD

Medium match CHROMOSOME 15q13.3 DELETION SYNDROME

Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by van Bon et al., 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al., 2010).

CHROMOSOME 15q13.3 DELETION SYNDROME Is also known as chromosome 15q13.3 microdeletion syndrome;del(15)(q13.3); monosomy 15q13.3

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: ORPHANET GARD OMIM UMLS MONDO MESH DOID SCTID

More info about CHROMOSOME 15q13.3 DELETION SYNDROME

Medium match CHROMOSOME 17q12 DELETION SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

CHROMOSOME 17q12 DELETION SYNDROME Is also known as ;del(17)(q12); monosomy 17q12

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID ORPHANET MONDO GARD OMIM

More info about CHROMOSOME 17q12 DELETION SYNDROME

Medium match VELOCARDIOFACIAL SYNDROME

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

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM

More info about VELOCARDIOFACIAL SYNDROME

Medium match DIGEORGE SYNDROME; DGS

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 chromosome 22q11.2 deletion syndrome, hypoplasia of thymus and parathyroids, third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM

More info about DIGEORGE SYNDROME; DGS

Medium match WILLIAMS-BEUREN SYNDROME; WBS

Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management.See also the distal chromosome 7q11.23 deletion syndrome (OMIM ), which occurs between the WBS region and the MAGI2 gene (OMIM ).

WILLIAMS-BEUREN SYNDROME; WBS Is also known as chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb, williams syndrome;wms;ws;deletion 7q11.23; monosomy 7q11.23; williams-beuren syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH ORPHANET UMLS DOID OMIM SCTID NCIT MONDO GARD

More info about WILLIAMS-BEUREN SYNDROME; WBS

Medium match USHER SYNDROME TYPE 1

USHER SYNDROME TYPE 1 Is also known as ush1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET UMLS

More info about USHER SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Schizophrenia

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

Patients with Delayed speech and language development and Schizophrenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Autosomal dominant inheritance

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality

Common Symptoms - More than 50% cases


Anxiety

Uncommon Symptoms - Between 30% and 50% cases


Hyperactivity Short stature Hearing impairment Aggressive behavior Cognitive impairment Nevus Microcephaly Generalized hypotonia Scoliosis Muscular hypotonia Depressivity Autism Abnormal facial shape Atrial septal defect Abnormality of cardiovascular system morphology Obesity Abnormal heart morphology Blepharophimosis Unilateral renal agenesis Retrognathia Cataract Hypothyroidism Patent ductus arteriosus Retinal vascular tortuosity Cerebral cortical atrophy Diabetes mellitus Arthritis Chorea Rheumatoid arthritis Inguinal hernia Strabismus Ventricular septal defect Milia Epicanthus Tetralogy of Fallot Cleft palate Micrognathia Aplasia of the uterus Protruding ear Cholelithiasis Abnormality of the pinna Umbilical hernia Arnold-Chiari malformation Bicuspid aortic valve Attention deficit hyperactivity disorder Bulbous nose Specific learning disability Obsessive-compulsive behavior Bipolar affective disorder Anemia Renal agenesis Posterior embryotoxon Restlessness EEG abnormality Autistic behavior High palate Open mouth Ataxia Macrotia Intellectual disability, severe

Rare Symptoms - Less than 30% cases


Anteverted nares Immunodeficiency Recurrent infections Posteriorly rotated ears Absent speech Renal cyst Autoimmunity Pulmonic stenosis Short nose Dysmetria Hemolytic anemia Vesicoureteral reflux Bifid uvula Amenorrhea Low posterior hairline Primary amenorrhea Hernia Spasticity Thrombocytopenia Recurrent urinary tract infections Depressed nasal bridge Feeding difficulties Renal insufficiency Malar flattening High forehead Hydronephrosis Renal hypoplasia Small nail Multicystic kidney dysplasia Hydrocephalus Psychosis Urethral stenosis Subcortical cerebral atrophy High hypermetropia Thin upper lip vermilion Short neck Renal dysplasia Fever Upslanted palpebral fissure Spina bifida Hallucinations Dysarthria Impaired T cell function Aplasia of the thymus Abnormality of dental enamel Arteria lusoria Sacral meningocele Right aortic arch with mirror image branching Ptosis Flexion contracture Hypertonia Right aortic arch Craniosynostosis Cleft lip Abnormality of the kidney Esotropia Coarctation of aorta Amblyopia Vascular tortuosity Sensorineural hearing impairment Duodenal stenosis Perimembranous ventricular septal defect Hypocalcemia Meningocele Purpura Nasal speech Acne Psoriasiform dermatitis Hypoparathyroidism Inflammation of the large intestine Abnormality of the vasculature Autoimmune hemolytic anemia Autoimmune thrombocytopenia Conotruncal defect Myelomeningocele Vitiligo Truncus arteriosus Stereotypy Cystic renal dysplasia Seborrheic dermatitis Juvenile rheumatoid arthritis Interrupted aortic arch Graves disease Cryptorchidism Hypoplasia of the corpus callosum Neoplasm Hypertension Paranoia Gait disturbance Developmental regression Hyperreflexia Tremor Hemiparesis Dental malocclusion Upper limb undergrowth Narrow forehead Downslanted palpebral fissures Mental deterioration Hypertelorism Macrocephaly Frontal bossing Nephritis Cerebellar atrophy Sleep disturbance Short philtrum Intellectual disability, mild Type II diabetes mellitus Failure to thrive Dementia Motor delay Involuntary movements Clinodactyly of the 5th finger Abnormality of the voice Intellectual disability, moderate Proteinuria Irritability Short attention span Nephrocalcinosis Hypogonadotrophic hypogonadism Nyctalopia Increased bone mineral density Cardiomegaly Abnormality of the fingernails Vocal cord dysfunction Visual loss Bilateral vocal cord paralysis Hypercalcemia Dysphonia Abnormality of pelvic girdle bone morphology Myxomatous mitral valve degeneration Calcinosis Medial flaring of the eyebrow Sacral dimple Ischemic stroke Reduced bone mineral density Overfriendliness Nystagmus-induced head nodding Abnormal dermatoglyphics Spina bifida occulta Early onset of sexual maturation Functional abnormality of male internal genitalia Dyssynergia Thyroid hemiagenesis Hoarse voice Cutis laxa Pointed chin Stellate iris Hemivertebrae Atrophy/Degeneration involving the corticospinal tracts Aplasia/Hypoplasia of the cerebellum Descending aorta hypoplasia Abnormal electroretinogram Parathyroid hyperplasia Scotoma Genu valgum Macroglossia Thick vermilion border Hypodontia Stroke Everted lower lip vermilion Malabsorption Nausea and vomiting Smooth philtrum Carious teeth Abnormal cardiac septum morphology Corneal opacity Full cheeks Joint hyperflexibility Broad forehead Small for gestational age Neurological speech impairment Low-set, posteriorly rotated ears Hyperlordosis Wide mouth Hypertrophic cardiomyopathy Joint stiffness Joint laxity Feeding difficulties in infancy Postural instability Broad nasal tip Iris hypopigmentation Recurrent otitis media Narrow face Dehydration Aortic valve stenosis Gingival overgrowth Myocardial infarction Hemianopia Mitral regurgitation Nephrolithiasis Abnormality of the cardiovascular system Hypsarrhythmia Vestibular hypofunction Sudden cardiac death Paralysis Otitis media Abnormal form of the vertebral bodies Abnormality of extrapyramidal motor function Ventricular hypertrophy Oral cleft Mitral valve prolapse Microdontia Hypotelorism Scarring Thick lower lip vermilion Hypoplasia of penis Radioulnar synostosis Precocious puberty Redundant skin Large earlobe Vocal cord paralysis Sudden death Dyslexia Enuresis Abnormality of the cerebral vasculature Colonic diverticula Abnormality of the neck Chronic constipation Abnormality of the ankles Tubulointerstitial abnormality Nevus flammeus Celiac disease Blue irides Down-sloping shoulders Renal duplication Loss of consciousness Pulmonary artery stenosis Multiple renal cysts Patellar dislocation Abnormality of lipid metabolism Arnold-Chiari type I malformation Tubulointerstitial nephritis Insomnia Synostosis of joints Poor coordination Phonophobia Dysgraphia Abnormality of nervous system morphology Arterial stenosis Peptic ulcer Bladder diverticulum Gait imbalance Abnormality of refraction Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Periorbital fullness Villous atrophy Periorbital edema Thyroid hypoplasia Death in early adulthood Increased nuchal translucency Abnormal glucose tolerance Cerebral ischemia Aplasia/Hypoplasia of the iris Right ventricular hypertrophy Decreased plasma carnitine Lacrimation abnormality Soft skin Hyperacusis Elfin facies Vertebral segmentation defect Unilateral renal hypoplasia Portal hypertension Calcification of the aorta Tracheoesophageal fistula Chronic otitis media Incoordination Increased body weight Hypoplastic toenails Abnormality of dental morphology Progressive hearing impairment Supravalvular aortic stenosis Polycystic ovaries Obsessive-compulsive trait Rectal prolapse Adducted thumb Impaired visuospatial constructive cognition Abnormality of the diencephalon Coronary artery stenosis Abnormal carotid artery morphology Hypercalciuria Paroxysmal bursts of laughter Flat cornea Nocturia Hypoplasia of the zygomatic bone Renovascular hypertension Megalocornea Prematurely aged appearance Abnormal renal morphology Renal artery stenosis Kyphoscoliosis Aortic arch aneurysm Hallux valgus Facial cleft Retinal arteriolar tortuosity Abnormality of the bladder Overriding aorta Failure to thrive in infancy Polyuria Premature graying of hair Infantile muscular hypotonia Abnormal endocardium morphology Pelvic kidney Abnormal social behavior Open bite Abnormality of the gastric mucosa Glucose intolerance Infantile hypercalcemia Arthralgia Low-set ears Pes planus Agitation Delayed gross motor development Abnormality of the palpebral fissures Increased head circumference Numerous nevi Eclabion Prominent nasal tip Deep palmar crease Thick upper lip vermilion Short 4th metacarpal Impulsivity Cerebral atrophy Phimosis Triphalangeal thumb Melanocytic nevus Finger clinodactyly Deep philtrum Choreoathetosis Epileptic encephalopathy Athetosis Poor speech Drooling Mandibular prognathia Long ear Hypertrichosis Hyperconvex nail Flat face Ovarian cyst Shawl scrotum Long fingers Language impairment Focal seizures with impairment of consciousness or awareness Renal hypoplasia/aplasia Horizontal nystagmus Sparse and thin eyebrow Elevated hepatic transaminase Large fontanelles Stage 5 chronic kidney disease Bilateral sensorineural hearing impairment Oligohydramnios Highly arched eyebrow Short foot Hypermetropia Short palm Nail dystrophy Facial asymmetry Tapered finger Synophrys Ureterocele Falls Generalized seizures Neurodegeneration Bradykinesia Neuronal loss in central nervous system Brain atrophy Abnormal cerebellum morphology Hyperglycinuria Infertility Gliosis Abnormality of eye movement Akinesia Cough Abnormality of movement Weight loss Rigidity Prolinuria Gait ataxia Hydroxyprolinuria Hyperprolinemia Dysphagia Progressive neurologic deterioration Bruxism Severe global developmental delay Nephroblastoma Autosomal recessive inheritance Retinopathy Abnormality of the genital system Clinodactyly Encephalopathy Ichthyosis Nephropathy Brachydactyly Status epilepticus Motor deterioration Mania Frequent temper tantrums Suicidal ideation Testicular atrophy Dilated fourth ventricle Chronic bronchitis Head tremor Hyperkinesis Bronchitis Hypokinesia Personality changes Long toe Hypoplasia of the bladder Gastroesophageal reflux Femoral hernia Parathyroid agenesis Type I truncus arteriosus Parathyroid hypoplasia Esophoria Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Anterior segment developmental abnormality Tetany Myopathy Hypoplasia of the thymus Sclerocornea Exotropia Broad thumb Short palpebral fissure Astigmatism High, narrow palate Iris coloboma Polymicrogyria Growth delay Visual impairment Nephrotic syndrome Elevated serum creatine phosphokinase Osteopenia Abdominal pain Coarse facial features Glaucoma Micropenis Osteoporosis Constipation Cerebellar hypoplasia Recurrent respiratory infections Delayed skeletal maturation Pain Midface retrusion Congestive heart failure Pectus excavatum Arrhythmia Abnormality of the dentition Long philtrum Kyphosis Myopia Wide nasal bridge Intrauterine growth retardation Microtia Telecanthus Abnormality of upper lip Eclampsia Hypoplasia of the brainstem Anal stenosis Apathy Hemiplegia Preeclampsia Dysdiadochokinesis Narrow palpebral fissure Abnormality of the hand Holoprosencephaly Peripheral demyelination Abnormality of the ear Intraventricular hemorrhage Underdeveloped nasal alae Congenital cataract Anal atresia Conductive hearing impairment Hypospadias X-linked recessive inheritance Pancreatic aplasia Ureteral atresia Aplasia of the vagina Myopathic facies Basal ganglia calcification Narrow mouth Velopharyngeal insufficiency Microphthalmia Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Vascular ring Perineal fistula Central nervous system degeneration Psychotic episodes Mood swings Perseveration Submucous cleft hard palate Platybasia Giant platelets Abnormality of the larynx Pulmonary artery atresia Abnormality of the endocrine system Echolalia Delusions Hearing abnormality Pierre-Robin sequence Axonal loss Abnormal cochlea morphology



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