Failure to thrive, and Schizophrenia

Diseases related with Failure to thrive and Schizophrenia

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

Top matches:

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

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

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:

Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

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

High match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

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 MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

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

Top 5 symptoms//phenotypes associated to Failure to thrive and Schizophrenia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Depressivity Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Schizophrenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Muscular hypotonia Cataract Behavioral abnormality Anxiety Attention deficit hyperactivity disorder Cryptorchidism Talipes equinovarus Optic atrophy Hydrocephalus Generalized hypotonia Autism Bipolar affective disorder Strabismus Hypertelorism Scoliosis Ptosis Spasticity Inguinal hernia Osteoporosis Hearing impairment Cerebral atrophy Growth delay Thrombocytopenia Anal atresia Macrocephaly Frontal bossing Intrauterine growth retardation Atrial septal defect Wide nasal bridge Hand polydactyly Hypospadias Glaucoma Gastroesophageal reflux Patent ductus arteriosus Feeding difficulties in infancy Microphthalmia Specific learning disability Long philtrum Aggressive behavior Sensorineural hearing impairment Abnormal facial shape Epicanthus Intellectual disability, moderate Intellectual disability, mild Hypogonadism Dysarthria Short neck Dementia Dysphagia Constipation Hypothyroidism Vomiting Hypoparathyroidism Tremor Abnormality of the dentition

Rare Symptoms - Less than 30% cases

Purpura Transient ischemic attack Hypoglycemia Spina bifida Postural instability Mental deterioration Stroke Arthritis Proteinuria Abnormality of the liver Pruritus Seborrheic dermatitis Arachnodactyly Hypopigmented skin patches Pulmonary embolism Abnormal thrombocyte morphology Nausea and vomiting Confusion Hepatic steatosis Coma Pancreatitis Peripheral axonal neuropathy Polyneuropathy Bruising susceptibility Nausea Paresthesia Blindness Areflexia Weight loss Hepatomegaly Peripheral neuropathy Anemia Splenomegaly Ataxia Hyperthyroidism Nystagmus Broad hallux phalanx Truncus arteriosus Foot polydactyly Transposition of the great arteries Hyperreflexia Coarctation of aorta Visual loss Vesicoureteral reflux Dysphasia Jaundice Iris coloboma Bulbous nose Joint hypermobility Joint hyperflexibility Toe syndactyly Abnormal cardiac septum morphology Hydronephrosis Agenesis of corpus callosum Clinodactyly of the 5th finger Ophthalmoplegia Pectus excavatum Fatigue Psychosis Primary adrenal insufficiency Hyperactivity Renal tubular dysfunction Dystonia Pigmentary retinopathy Hypertonia Adrenal insufficiency Ventricular septal defect Macular degeneration Myalgia Hyponatremia Edema External ophthalmoplegia Telecanthus Ophthalmoparesis Congestive heart failure Immunodeficiency Abnormality of cardiovascular system morphology Carious teeth Ventriculomegaly Intestinal malrotation Downslanted palpebral fissures Low-set ears Tetralogy of Fallot Personality changes Delayed puberty Feeding difficulties High palate Asthma Dehydration Abnormality of mitochondrial metabolism Hallucinations Neurological speech impairment Hypogonadotrophic hypogonadism Hip dysplasia Arthrogryposis multiplex congenita Hip dislocation Dysmetria Autistic behavior Hypercalciuria Micrognathia Azoospermia Involuntary movements Cerebral ischemia Reduced consciousness/confusion Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Gait imbalance Hemianopia Tubulointerstitial nephritis Heart block Proximal tubulopathy Delusions Cardiorespiratory arrest Posterior subcapsular cataract Facial diplegia Progressive external ophthalmoplegia Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Mitochondrial myopathy Xerostomia Atopic dermatitis Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Aortic dissection Abnormality of the renal tubule Speech apraxia Left ventricular failure Stroke-like episode Hashimoto thyroiditis Anterior hypopituitarism Ileus Intestinal obstruction Drowsiness Anorexia Ventricular hypertrophy Atrial fibrillation Hemiparesis Hypertrichosis Decreased body weight Left ventricular hypertrophy Gingival overgrowth Pulmonary arterial hypertension Abnormality of retinal pigmentation Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia EMG abnormality Generalized hirsutism Status epilepticus Type II diabetes mellitus Exercise intolerance Sensory impairment Hirsutism Nephropathy Muscle cramps Abnormal cerebellum morphology Generalized myoclonic seizures Sudden cardiac death Migraine Nephrotic syndrome Increased serum lactate Memory impairment Amenorrhea Cerebral calcification Abnormality of the cardiovascular system Generalized-onset seizure Bilateral sensorineural hearing impairment Type I diabetes mellitus Reduced tendon reflexes Distal arthrogryposis Prolonged QT interval Overlapping toe Bundle branch block Aphasia Vestibular dysfunction Hyperkalemia Visual field defect Multiple lipomas Focal segmental glomerulosclerosis Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Basal ganglia calcification Rhabdomyolysis Thyroiditis Abnormality of immune system physiology Abnormality of neuronal migration Hemiplegia/hemiparesis Ragged-red muscle fibers Atrioventricular block Ischemic stroke Mutism Goiter Hyperkinesis Easy fatigability Growth abnormality Chronic kidney disease Cachexia Mask-like facies Decreased nerve conduction velocity Bilateral ptosis Hemiplegia Aortic aneurysm Motor polyneuropathy Aplasia/Hypoplasia of the cerebellum Bifid scrotum Episodic vomiting Osteopenia Dysesthesia Multicystic kidney dysplasia Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Chorioretinal coloboma Ectropion Trigonocephaly Pyloric stenosis Infantile muscular hypotonia Tachypnea Abnormal palate morphology Holoprosencephaly Horseshoe kidney Slender finger Bone marrow hypocellularity Aortic valve stenosis Leukodystrophy Short toe Sinusitis Short thumb Amblyopia Pachygyria Abnormal form of the vertebral bodies Pancytopenia Eczema Microdontia Otitis media Growth hormone deficiency Partial agenesis of the corpus callosum Natal tooth Decreased antibody level in blood Long hallux Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Abnormality of the head Wheezing Eyelid coloboma Abnormal eyelash morphology Double outlet right ventricle Missing ribs Diastasis recti Retinal dysplasia Chronic constipation Duodenal atresia Nasolacrimal duct obstruction Ectopic anus Mitral stenosis Nuclear cataract Aplasia/Hypoplasia of the earlobes Labial hypoplasia Broad columella Webbed neck Premature birth Psychomotor deterioration Spotty hypopigmentation Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Abnormal macular morphology Prominent ear helix Amaurosis fugax Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Gastroparesis Auditory hallucinations Hemeralopia Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Morphological abnormality of the inner ear Flexion contracture Microcornea Camptodactyly Single transverse palmar crease Tachycardia Smooth philtrum Talipes Facial asymmetry Narrow chest Dolichocephaly Small for gestational age Leukemia Finger syndactyly Skin rash Coloboma Craniosynostosis Postnatal growth retardation Low-set, posteriorly rotated ears Depressed nasal bridge Clinodactyly Brachydactyly Anteverted nares Short nose Syndactyly Recurrent infections Hernia Abnormal heart morphology Thin upper lip vermilion Recurrent respiratory infections Prominent forehead High forehead Lactic acidosis Retrognathia Pes planus Polymicrogyria Turricephaly Vertigo Sleep disturbance Abnormality of the nervous system Elevated hepatic transaminase Rigidity Difficulty walking Hepatosplenomegaly Arthralgia Neoplasm Ankyloglossia Interrupted aortic arch High hypermetropia Broad hallux Broad thumb Short foot Infertility Joint laxity Deeply set eye Hypermethioninemia Personality disorder Biconcave vertebral bodies Homocystinuria Cerebral edema Precocious atherosclerosis Generalized osteoporosis Peripheral arterial stenosis Thromboembolism Disproportionate tall stature Cutis marmorata Abnormality of the cerebral white matter Poor speech Ectopia lentis Aminoaciduria Arthropathy Osteomalacia Glycosuria Pathologic fracture Global brain atrophy Oral-pharyngeal dysphagia Back pain Abnormality of the hand Drooling Leukoencephalopathy Leukopenia Nephrocalcinosis Spontaneous abortion Cirrhosis Muscle stiffness Increased body weight Bone pain Decreased liver function Nephrolithiasis Clumsiness Cholestasis Osteoarthritis Progressive neurologic deterioration Hepatitis Ascites Hemolytic anemia Hepatic failure Obsessive-compulsive behavior Brittle hair Joint swelling Blurred vision Accelerated skeletal maturation Hyperpigmentation of the skin Muscular dystrophy Spinocerebellar atrophy Supranuclear ophthalmoplegia Limb tremor Orofacial dyskinesia Olivopontocerebellar atrophy Spinocerebellar tract degeneration Head tremor Slow saccadic eye movements Macular dystrophy Incoordination Precocious puberty Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Progressive visual loss Chorea Progressive cerebellar ataxia Dyskinesia Retinal degeneration Paraplegia Spastic paraplegia Abnormal pyramidal sign Retinopathy Reduced visual acuity Babinski sign Shock Adrenal hypoplasia Atherosclerosis Constrictive median neuropathy Aspiration Tall stature Dental crowding Myocardial infarction Mitral valve prolapse Limitation of joint mobility Hypopigmentation of the skin Retinal detachment Pectus carinatum Kyphoscoliosis Dilatation Abnormality of the skeletal system Myopia Relative macrocephaly Adrenal hyperplasia Hypoplasia of the corpus callosum Adrenocortical hypoplasia 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 Abnormality of blood and blood-forming tissues Hepatocellular carcinoma Ichthyosis Cognitive impairment Diarrhea Cerebellar atrophy Myopathy Cardiomyopathy Respiratory distress Respiratory insufficiency Gait disturbance Skeletal muscle atrophy Fever Hypertension Motor delay Visual impairment Pain Renal insufficiency Muscle weakness Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Kyphosis Headache Abnormality of the pharynx EEG abnormality Malabsorption Congenital cataract Lethargy Generalized tonic-clonic seizures Dilated cardiomyopathy Nyctalopia Erythema Protruding ear Abnormality of the pinna Developmental regression Apnea Hypertrophic cardiomyopathy Photophobia Encephalopathy Acidosis Dyspnea Gait ataxia Cerebral cortical atrophy Abdominal pain Diabetes mellitus Myoclonus Rod-cone dystrophy Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Hyporeflexia Arrhythmia Small earlobe Abnormal aortic valve morphology Hand tremor Acute hepatitis Conductive hearing impairment Umbilical hernia Polyhydramnios Narrow mouth Upslanted palpebral fissure Obesity Malar flattening Cleft palate Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Hypersexuality Short philtrum Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Esophageal varix Chondrocalcinosis Acute hepatic failure Increased reactive oxygen species production Autoimmunity Prominent nasal bridge Hypoplasia of the thymus Bowel incontinence Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormal eyelid morphology Meningocele Abnormality of the skull Multiple renal cysts Patellar dislocation Abnormal lung lobation Posterior embryotoxon Acne Long face Chronic otitis media Overfolded helix Abnormality of the thorax Cholelithiasis Polycystic kidney dysplasia Nasal speech Laryngomalacia Abnormality of dental enamel Hypocalcemia Aganglionic megacolon Choanal atresia Renal hypoplasia Gastrointestinal hemorrhage Abnormality of the curvature of the vertebral column


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Short foot, related diseases and genetic alterations Neuroblastoma and Talipes, related diseases and genetic alterations Depressed nasal bridge and Ectodermal dysplasia, related diseases and genetic alterations Peripheral neuropathy and Skeletal dysplasia, related diseases and genetic alterations