Intrauterine growth retardation, and Schizophrenia

Diseases related with Intrauterine growth retardation and Schizophrenia

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

Top 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

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Other less relevant matches:

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

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

High match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

High match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Schizophrenia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Behavioral abnormality Common - Between 50% and 80% cases
Autism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Schizophrenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Attention deficit hyperactivity disorder Depressivity Hearing impairment Anxiety Epicanthus Abnormal facial shape Failure to thrive Short stature Scoliosis Neurological speech impairment Cryptorchidism Microcephaly Thrombocytopenia Sensorineural hearing impairment Joint hyperflexibility Growth delay Ataxia Sleep disturbance Autistic behavior Cognitive impairment Inguinal hernia Patent ductus arteriosus Psychosis Abnormality of the dentition Wide nasal bridge Cataract Long philtrum Strabismus Intellectual disability, mild Atrial septal defect Ventricular septal defect Frontal bossing Macrocephaly Low-set ears Micrognathia Hypothyroidism Hydrocephalus High forehead Glaucoma Agenesis of corpus callosum Obsessive-compulsive behavior Spasticity Hyperreflexia Feeding difficulties in infancy Malar flattening Optic atrophy Ptosis Joint laxity Hand polydactyly Microphthalmia Coarctation of aorta Vesicoureteral reflux Abnormal cardiac septum morphology Feeding difficulties Hyperactivity Intellectual disability, moderate Aggressive behavior Clinodactyly of the 5th finger Pectus excavatum Cleft palate Talipes equinovarus Flexion contracture Constipation Bipolar affective disorder Dysarthria Smooth philtrum Tremor Gait disturbance Dehydration Dementia Paralysis Postural instability

Rare Symptoms - Less than 30% cases

Slender finger Delayed speech and language development Urethral stenosis Chronic constipation Infantile muscular hypotonia Long nose Amblyopia Azoospermia Aortic valve stenosis Abnormal form of the vertebral bodies Microdontia Otitis media Small for gestational age Glucose intolerance Visual impairment Asthma Abnormality of the voice Hypogonadotrophic hypogonadism Arachnodactyly Long face Precocious puberty Open mouth Broad thumb Progressive hearing impairment Hallucinations Gingival overgrowth Myopathy Narrow face Type II diabetes mellitus Thick vermilion border Broad forehead Diabetes mellitus Cerebellar hypoplasia Nasal speech Hypoglycemia Low-set, posteriorly rotated ears Pes planus Anal atresia Delayed puberty Patellar dislocation Immunodeficiency Abnormality of cardiovascular system morphology Obesity Hypospadias Posterior embryotoxon Chronic otitis media Cholelithiasis Abnormality of dental enamel Downslanted palpebral fissures Spina bifida Renal hypoplasia Tetralogy of Fallot Gastroesophageal reflux Umbilical hernia Telecanthus Intestinal malrotation Carious teeth Short neck Multiple renal cysts Osteopenia Iris coloboma Hypogonadism Hydronephrosis Osteoporosis Recurrent respiratory infections Abnormal heart morphology Hernia Toe syndactyly Bulbous nose Short nose Hypertelorism Congestive heart failure Depressed nasal bridge Retinal arteriolar tortuosity High hypermetropia Transposition of the great arteries Foot polydactyly Truncus arteriosus Broad hallux phalanx Abnormal thrombocyte morphology Widely spaced teeth Craniosynostosis Prominent nasal bridge Developmental regression Abnormality of movement Dysphonia Dystonia Mitral valve prolapse Pain Bruising susceptibility Dysmetria Ophthalmoplegia Skin rash Dysphagia Corneal opacity Splenomegaly Hepatomegaly Chorea Hypertension Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Progressive neurologic deterioration Clumsiness Emotional lability Athetosis Congenital thrombocytopenia Ventriculomegaly Mental deterioration Brachydactyly Thin upper lip vermilion Prominent forehead Abnormal pyramidal sign Short philtrum High palate Protruding ear Abnormality of dental morphology Unilateral renal agenesis Nephritis Kyphoscoliosis Portal hypertension Arthralgia Radioulnar synostosis Failure to thrive in infancy Redundant skin Hypercalcemia Tracheoesophageal fistula Hypercalciuria Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Ischemic stroke Sacral dimple Bicuspid aortic valve Hypoplastic toenails Scarring Motor delay Abnormality of lipid metabolism Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Down-sloping shoulders Abnormality of the vasculature Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Cerebral cortical atrophy Megalocornea Fatigue Insomnia Restlessness Facial cleft Prematurely aged appearance Celiac disease Vertebral segmentation defect Premature graying of hair Micropenis Hallux valgus Open bite Loss of consciousness Macrotia Polyuria Spina bifida occulta Abnormal dermatoglyphics Macroglossia Hypoplasia of penis Hypotelorism Narrow forehead Abnormality of the cardiovascular system Renal agenesis Esotropia Dental malocclusion Joint stiffness Chest pain Sudden cardiac death Full cheeks Broad nasal tip Hypsarrhythmia Hypodontia Everted lower lip vermilion Wide mouth Headache Oral cleft Genu valgum Malabsorption Blepharophimosis Nausea and vomiting Pulmonic stenosis Encephalopathy Cardiomegaly Irritability Cutis laxa Tubulointerstitial nephritis Stroke Coarse facial features Abnormality of the fingernails Nephrocalcinosis Hemivertebrae Proteinuria Pointed chin Increased body weight Hypertrophic cardiomyopathy Increased bone mineral density Hoarse voice Nephrolithiasis Hyperlordosis Recurrent urinary tract infections Involuntary movements Mitral regurgitation Recurrent otitis media Cleft lip Hemiparesis Myocardial infarction Abnormality of the kidney Thick lower lip vermilion Small nail Ventricular hypertrophy Right ventricular hypertrophy Abnormality of refraction Large earlobe Primary adrenal insufficiency Absence of pubertal development Congenital adrenal hypoplasia Abnormal spermatogenesis Congenital adrenal hyperplasia Decreased circulating aldosterone level Long penis Gonadotropin deficiency High-frequency hearing impairment Decreased circulating cortisol level Oligospermia Renal salt wasting Adrenal hyperplasia Adrenal hypoplasia Adrenal insufficiency Hypoplasia of the corpus callosum Hyponatremia Shock Accelerated skeletal maturation Hyperpigmentation of the skin Muscular dystrophy Vomiting Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Stellate iris Dyssynergia Early onset of sexual maturation Adrenocortical hypoplasia Posteriorly rotated ears Nystagmus-induced head nodding Progressive cerebellar ataxia Primary gonadal insufficiency Central diabetes insipidus Abnormality of the upper urinary tract Gastrointestinal dysmotility Male hypogonadism Severe postnatal growth retardation Severe vision loss Optic neuropathy Scotoma Abnormality of color vision Diabetes insipidus Congenital sensorineural hearing impairment Bilateral sensorineural hearing impairment Peripheral axonal neuropathy Mandibular prognathia Retinopathy Pallor Abnormality of the pinna Visual loss Respiratory insufficiency Peripheral neuropathy Facial hypotonia Neurodevelopmental delay Sparse eyebrow Cerebellar vermis hypoplasia Highly arched eyebrow Short distal phalanx of finger Thick eyebrow Overfriendliness Thyroid hemiagenesis Abnormality of the neck Cystic renal dysplasia Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Arterial stenosis Rectal prolapse Periorbital edema Peptic ulcer Bladder diverticulum Renal duplication Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Periorbital fullness Gait imbalance Gait ataxia Cerebral ischemia Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Aplasia/Hypoplasia of the iris Colonic diverticula Bilateral vocal cord paralysis Abnormality of the gastric mucosa Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Abnormal social behavior Renovascular hypertension Infantile hypercalcemia Vascular tortuosity Food intolerance Pelvic kidney Hyperacusis Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Tubulointerstitial abnormality Abnormality of the ankles Abdominal pain Abnormality of the curvature of the vertebral column Rigidity Progressive choreoathetosis Specific learning disability Gastrointestinal hemorrhage Alcoholism Mood swings Subcutaneous hemorrhage Limb dysmetria Autoimmunity Focal motor seizures Micrographia Arthritis Myalgia Conductive hearing impairment Pill-rolling tremor Orofacial dyskinesia Polyhydramnios Calcification of the small brain vessels Narrow mouth Dense calcifications in the cerebellar dentate nucleus Upslanted palpebral fissure Anemia Pneumonia Myoclonus Jaundice Hepatosplenomegaly Neonatal hypotonia Abnormality of the nervous system Pseudohypoparathyroidism Choanal atresia Abnormality of the cerebral white matter Hyperthyroidism Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormal eyelid morphology Meningocele Abnormality of the skull Basal ganglia calcification Progressive encephalopathy Hypoparathyroidism Turricephaly Abnormal lung lobation Frontotemporal dementia Bowel incontinence Aganglionic megacolon Dysphasia Acne Lewy bodies Overfolded helix Abnormality of the thorax Abnormal lower motor neuron morphology Polycystic kidney dysplasia Laryngomalacia Hypopigmented skin patches Purpura Calcinosis Hypocalcemia Focal dystonia Generalized tonic-clonic seizures Ankyloglossia Corneal neovascularization Low cholesterol esterification rates Abnormally folded helix Cat cry Oppositional defiant disorder Low frustration tolerance Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Abnormality of the rib cage Macroorchidism Aortic root aneurysm Abnormal cholesterol homeostasis Narrow nasal bridge Disproportionate tall stature Sea-blue histiocytosis Fatal liver failure in infancy Aortic aneurysm Deep philtrum Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Short chin Dilatation Anorexia Dental crowding Brachycephaly Hypoplasia of the maxilla Camptodactyly of finger Foam cells in visceral organs and CNS Fetal ascites Interrupted aortic arch Prolonged neonatal jaundice Retinal degeneration Cirrhosis Neurodegeneration Broad hallux Ascites Tetraplegia Oligohydramnios Short foot Spastic tetraplegia Joint hypermobility Intellectual disability, profound Intention tremor Neurofibrillary tangles Rapid neurologic deterioration Loss of speech Deeply set eye Trismus Head tremor Supranuclear gaze palsy Spastic dysarthria Aplasia/Hypoplasia of the abdominal wall musculature Foam cells Visceromegaly Vertical supranuclear gaze palsy Cataplexy Supranuclear ophthalmoplegia Bone-marrow foam cells Abnormality of the uterus Tetany Elevated serum creatine phosphokinase Flat occiput Eyelid coloboma Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Wheezing Natal tooth Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Hammertoe Ectopic anus Heart murmur Chorioretinal coloboma Ectropion Trigonocephaly Pyloric stenosis Tachypnea Abnormal palate morphology Vertigo Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Bone marrow hypocellularity Duodenal atresia Mitral stenosis Leukodystrophy Internal hemorrhage Delayed skeletal maturation Absent speech Midface retrusion Renal insufficiency Kyphosis Hypertonia Respiratory distress Myopia Abnormality of the liver Megakaryocyte dysplasia Bilateral camptodactyly Arteria lusoria Annular pancreas Nuclear cataract Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Labial hypoplasia Aplasia/Hypoplasia of the earlobes Dyskinesia Short toe Hypoplasia of the thymus Multiple suture craniosynostosis Muscle stiffness Slurred speech Clinodactyly Dysdiadochokinesis Recurrent infections Cerebral atrophy Syndactyly Oral-pharyngeal dysphagia Anteverted nares Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Abnormal aortic arch morphology Choreoathetosis Hypertensive crisis Mask-like facies Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Abnormality of neuronal migration Seborrheic dermatitis Broad-based gait Retrognathia Sinusitis Microcornea Short thumb Abnormal cerebellum morphology Pachygyria Parkinsonism Pancytopenia Eczema Gliosis Urinary incontinence Growth hormone deficiency Webbed neck Decreased antibody level in blood Premature birth Single transverse palmar crease Bradykinesia Tachycardia Memory impairment Talipes Facial asymmetry Narrow chest Dolichocephaly Hip dislocation Leukemia Finger syndactyly Coloboma Cerebral calcification Postnatal growth retardation Camptodactyly Moderate hearing impairment


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