Intrauterine growth retardation, and Bipolar affective disorder

Diseases related with Intrauterine growth retardation and Bipolar affective disorder

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Bipolar affective disorder 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

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

Other less relevant matches:

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

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

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

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

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Bipolar affective disorder

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Thrombocytopenia Schizophrenia Hearing impairment Dementia Abnormality of cardiovascular system morphology Muscular hypotonia Hypothyroidism Microcephaly Parkinsonism Failure to thrive Hypertelorism Abnormal facial shape Cataract Downslanted palpebral fissures Behavioral abnormality Strabismus Anxiety Dysphagia Dysarthria Rigidity Hydrocephalus Fatigue Gait disturbance Micrognathia Cleft palate Hepatomegaly Ptosis Spina bifida Epicanthus Wide nasal bridge Ventricular septal defect Short neck Atrial septal defect Feeding difficulties in infancy Abnormality of the dentition Intellectual disability, mild Splenomegaly Anemia Immunodeficiency Obesity Hypospadias Patent ductus arteriosus Inguinal hernia Ataxia Anal atresia Arrhythmia Attention deficit hyperactivity disorder Arthritis Mental deterioration Cholelithiasis Psychosis Memory impairment Cerebral atrophy Abnormal heart morphology Chorea Neurological speech impairment Congestive heart failure Frontal bossing Generalized hypotonia

Rare Symptoms - Less than 30% cases

Tetralogy of Fallot Intestinal malrotation Bruising susceptibility Abnormality of the cardiovascular system Echolalia Specific learning disability Bifid uvula Smooth philtrum Recurrent infections Hernia Pancytopenia Feeding difficulties Pectus excavatum Recurrent respiratory infections Vesicoureteral reflux Peripheral neuropathy Bulbous nose Cardiomyopathy Myopathy Osteoporosis Hypogonadism Areflexia Elevated serum creatine phosphokinase Osteopenia Retrognathia Muscle weakness Abnormal thrombocyte morphology Spasticity Arteria lusoria Kyphosis Acne Dysphasia Bowel incontinence Posterior embryotoxon Hypoparathyroidism Meningocele Hand polydactyly Truncus arteriosus Hypoplasia of the corpus callosum High palate Delayed speech and language development Infantile muscular hypotonia Myopia Abnormality of the thorax Abnormality of the pharynx Seborrheic dermatitis Trigonocephaly Sensorineural hearing impairment Hypocalcemia Growth delay Multicystic kidney dysplasia Low-set, posteriorly rotated ears EEG abnormality Holoprosencephaly Apathy Impaired T cell function Platybasia Hyperactivity Small for gestational age Purpura Nasal speech Giant platelets Autoimmunity Telecanthus Ventricular fibrillation Mood swings Tremor Ventriculomegaly Amenorrhea Orofacial dyskinesia Gliosis Dystonia Hallucinations Sleep apnea Basal ganglia calcification Obsessive-compulsive behavior Emotional lability Hemolytic anemia Oral-pharyngeal dysphagia Dysdiadochokinesis Sensory axonal neuropathy Corneal opacity Abnormality of movement Dysmetria Progressive neurologic deterioration Insomnia Bradykinesia Dyskinesia Postural instability Neuronal loss in central nervous system Sensory neuropathy Left ventricular hypertrophy Paresthesia Pain Hepatosplenomegaly Long philtrum Talipes equinovarus Optic atrophy Dyspnea Autism Constipation Cryptorchidism Low-set ears Microphthalmia Motor delay Gastroesophageal reflux Lower limb muscle weakness Myalgia Conductive hearing impairment Umbilical hernia Skeletal muscle atrophy Diabetes mellitus Abnormality of dental morphology Visual impairment Abnormality of eye movement Language impairment Stereotypy Failure to thrive in infancy Hyporeflexia Patent foramen ovale Hypercholesterolemia Delayed puberty Respiratory insufficiency High hypermetropia Open bite Hypocholesterolemia Central sleep apnea Expressive language delay Diarrhea Blood group antigen abnormality Recurrent singultus Delayed skeletal maturation Prominent nasal tip Poor fine motor coordination Myoclonus Abdominal pain Abnormality of the eye Abnormal renal morphology Abnormal facial expression Speech apraxia Abnormality of chromosome segregation Hyporeflexia of upper limbs Abnormality of the astrocytes Proteinuria Poor eye contact Receptive language delay Dental crowding Abnormality of the kidney Cerebral cortical atrophy Diplopia Mitochondrial myopathy Progressive external ophthalmoplegia Resting tremor Abnormality of the thyroid gland Coronary artery atherosclerosis Ventricular hypertrophy Status epilepticus Ophthalmoparesis Progressive muscle weakness Premature ovarian insufficiency Increased serum lactate Bilateral ptosis Bradycardia Dysphonia Mutism EMG: myopathic abnormalities Exercise intolerance External ophthalmoplegia Progressive hearing impairment Ragged-red muscle fibers Limb-girdle muscle weakness Sensory ataxia Dental malocclusion Autistic behavior Delayed myelination Proximal muscle weakness Triangular face Hypoplasia of the maxilla Severe global developmental delay Ophthalmoplegia Hypermetropia Broad forehead Wide mouth Limb muscle weakness Cytochrome C oxidase-negative muscle fibers Abnormality of skin pigmentation Apnea Neonatal hypotonia Muscle cramps Mandibular prognathia Generalized muscle weakness Brain atrophy Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Migraine Lymphadenopathy Abnormality of the spleen Cirrhosis Primary amenorrhea Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Unilateral renal agenesis Psoriasiform dermatitis Rheumatoid arthritis Abnormality of the hand Arnold-Chiari malformation Bicuspid aortic valve Narrow palpebral fissure Renal dysplasia Open mouth Low posterior hairline Axonal loss Peripheral demyelination Renal agenesis Underdeveloped nasal alae Pulmonic stenosis Congenital cataract Blepharophimosis Abnormality of the pinna Aggressive behavior Posteriorly rotated ears Absent speech Cerebellar atrophy Intellectual disability, severe Fever Autoimmune hemolytic anemia Submucous cleft hard palate Cardiac valve calcification Duodenal stenosis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Retinal vascular tortuosity Paranoia Right aortic arch Autoimmune thrombocytopenia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Myelomeningocele Pierre-Robin sequence Delusions Hearing abnormality Vitiligo Anal stenosis Horizontal supranuclear gaze palsy Hematological neoplasm Hematuria Increased bone mineral density Increased antibody level in blood Osteomyelitis Menorrhagia Leukocytosis Clubbing Portal hypertension Increased susceptibility to fractures Reduced bone mineral density Leukopenia Oculomotor apraxia Osteolysis Spastic paraparesis Meningitis Bone pain Petechiae Hepatic fibrosis Anorexia Decreased body weight Osteoarthritis Epistaxis Pulmonary arterial hypertension Apraxia Cyanosis Syncope Generalized myoclonic seizures Abnormal bleeding Abdominal distention Ascites Abnormality of coagulation Pericardial effusion Decreased beta-glucocerebrosidase protein and activity Periorbital edema Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Hypersplenism Esodeviation Generalized osteosclerosis Interstitial pulmonary abnormality Caudate atrophy Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Increased serum ferritin Hepatocellular carcinoma Gingival bleeding Protuberant abdomen Aseptic necrosis Exertional dyspnea Pathologic fracture Abnormal corpus striatum morphology Broad hallux phalanx Abnormal lactate dehydrogenase activity Chronic obstructive pulmonary disease Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Arrhinencephaly Small earlobe Abnormal aortic valve morphology Hypoplasia of the thymus Tetany Corneal neovascularization Abnormality of the uterus Atelectasis Multiple suture craniosynostosis Varicose veins Abnormal eyelid morphology Abnormality of the skull Multiple renal cysts Patellar dislocation Turricephaly Abnormal lung lobation Foot polydactyly Hyperthyroidism Chronic otitis media Overfolded helix Abnormal aortic arch morphology Tricuspid atresia Laryngomalacia Pes planus Finger syndactyly Skin rash Abnormal cardiac septum morphology Coloboma Craniosynostosis Postnatal growth retardation Camptodactyly Intellectual disability, moderate Hydronephrosis Hypoglycemia Thin upper lip vermilion High forehead Abnormality of the tonsils Prominent forehead Agenesis of corpus callosum Clinodactyly of the 5th finger Clinodactyly Syndactyly Short nose Anteverted nares Macrocephaly Brachydactyly Depressed nasal bridge Flexion contracture Occipital myelomeningocele Polycystic kidney dysplasia Hypopigmented skin patches Hip dislocation Abnormality of extrapyramidal motor function Lewy bodies Frontotemporal dementia Progressive encephalopathy Abnormality of neuronal migration Mask-like facies Athetosis Slurred speech Muscle stiffness Clumsiness Broad-based gait Choreoathetosis Cerebral calcification Calcinosis Urinary incontinence Abnormal cerebellum morphology Vertigo Abnormal pyramidal sign Abnormality of the liver Paralysis Gait ataxia Encephalopathy Headache Hyperreflexia Hypertension Abnormal lower motor neuron morphology Focal dystonia Abnormality of dental enamel Polyhydramnios Aganglionic megacolon Choanal atresia Renal hypoplasia Gastrointestinal hemorrhage Asthma Long face Arachnodactyly Joint hyperflexibility Carious teeth Prominent nasal bridge Short philtrum Narrow mouth Pseudohypoparathyroidism Glaucoma Upslanted palpebral fissure Malar flattening Dense calcifications in the cerebellar dentate nucleus Calcification of the small brain vessels Pill-rolling tremor Progressive choreoathetosis Micrographia Focal motor seizures Limb dysmetria Subcutaneous hemorrhage Alcoholism Leukemia Dolichocephaly Abnormal social behavior Bilateral camptodactyly Hypertonia Anodontia Large hands Oligodontia Tapered finger Everted lower lip vermilion Wide nose Pectus carinatum Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Internal hemorrhage Hyperhidrosis Annular pancreas Abnormality of the anus Toe clinodactyly Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Babinski sign Elevated hepatic transaminase Labial hypoplasia Ventricular extrasystoles Impaired temperature sensation Generalized limb muscle atrophy Personality disorder Increased muscle fatiguability Hyporeflexia of lower limbs Excessive salivation Tics Acanthocytosis Supraventricular tachycardia Motor axonal neuropathy Left bundle branch block Restlessness Dilated cardiomyopathy Impaired pain sensation Impaired vibration sensation in the lower limbs Rhabdomyolysis Personality changes Ventricular arrhythmia Cardiac arrest Sensorimotor neuropathy Involuntary movements Atrial fibrillation Generalized-onset seizure Confusion Abnormality of the cerebral white matter Broad columella Aplasia/Hypoplasia of the earlobes Toe syndactyly Microdontia Aortic valve stenosis Leukodystrophy Short toe Sinusitis Short thumb Amblyopia Pachygyria Abnormal form of the vertebral bodies Coarctation of aorta Eczema Dehydration Otitis media Horseshoe kidney Growth hormone deficiency Webbed neck Decreased antibody level in blood Premature birth Microcornea Single transverse palmar crease Iris coloboma Tachycardia Talipes Facial asymmetry Narrow chest Bone marrow hypocellularity Azoospermia Nuclear cataract Transposition of the great arteries Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Wheezing Natal tooth Abnormal palate morphology Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Chorioretinal coloboma Ectropion Pyloric stenosis Tachypnea Unilateral primary pulmonary dysgenesis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Dystonia, related diseases and genetic alterations Delayed speech and language development and Focal seizures, related diseases and genetic alterations Tremor and Peripheral axonal neuropathy, related diseases and genetic alterations Myopathy and Absent speech, related diseases and genetic alterations Ptosis and Fever, related diseases and genetic alterations Low-set ears and Narrow mouth, related diseases and genetic alterations