Epicanthus, and Bipolar affective disorder

Diseases related with Epicanthus and Bipolar affective disorder

In the following list you will find some of the most common rare diseases related to Epicanthus and Bipolar affective disorder that can help you solving undiagnosed cases.

Top matches:

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

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

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Other less relevant matches:

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

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

FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.

FRAXE INTELLECTUAL DISABILITY Is also known as fraxe mental retardation syndrome|intellectual disability associated with fragile site fraxe

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRAXE INTELLECTUAL DISABILITY

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid|trihydroxycoprostanic acid in bile

Related symptoms:

  • Failure to thrive
  • Epicanthus
  • Hepatomegaly
  • Frontal bossing
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

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

Top 5 symptoms//phenotypes associated to Epicanthus and Bipolar affective disorder

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Attention deficit hyperactivity disorder Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Frontal bossing

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Abnormality of the dentition Downslanted palpebral fissures Delayed speech and language development Hyperactivity Anxiety Abnormal facial shape Failure to thrive Behavioral abnormality Hypertelorism Micrognathia Low-set ears Muscular hypotonia Scoliosis Depressivity Schizophrenia Generalized hypotonia Intellectual disability, mild Abnormality of cardiovascular system morphology Autism Small for gestational age Immunodeficiency Smooth philtrum Long philtrum Single transverse palmar crease Thin upper lip vermilion Prominent nasal bridge Intellectual disability, moderate Aggressive behavior Inguinal hernia Autistic behavior Patent ductus arteriosus Cataract Pectus excavatum Microphthalmia Hypospadias Feeding difficulties in infancy Wide nasal bridge Hearing impairment Strabismus Cleft palate Feeding difficulties Hypothyroidism Gastroesophageal reflux

Rare Symptoms - Less than 30% cases

Posteriorly rotated ears Spina bifida Pectus carinatum Short philtrum Obsessive-compulsive behavior Hand polydactyly Abnormal thrombocyte morphology Asthma Clinodactyly of the 5th finger Joint hyperflexibility Microdontia Anal atresia Spasticity Recurrent infections Clinodactyly Thrombocytopenia Telecanthus Narrow mouth Facial asymmetry Long face Malar flattening Intrauterine growth retardation Intestinal malrotation Atrial septal defect Hydrocephalus Short neck Talipes equinovarus Ventricular septal defect Optic atrophy Ptosis Everted lower lip vermilion Cryptorchidism Nasal speech Horseshoe kidney Aortic valve stenosis Oligodontia Psychosis Constipation Tapered finger Obesity Prominent nose Hernia Abnormality of the pharynx Infantile muscular hypotonia Abnormal heart morphology Myopia Trigonocephaly Hypermetropia Broad forehead Dysphasia Stereotypy High palate Low-set, posteriorly rotated ears Dental crowding Hypoplasia of the corpus callosum Cognitive impairment Macrocephaly Mandibular prognathia Short nose Double outlet right ventricle Pyloric stenosis Chronic constipation Chorioretinal coloboma Ectropion Azoospermia Tachypnea Abnormal palate morphology Eyelid coloboma Holoprosencephaly Duodenal atresia Retinal dysplasia Hammertoe Heart murmur Abnormal eyelash morphology Flat occiput Aplasia/Hypoplasia of the eyebrow Hypoplastic left heart Neurodevelopmental delay Atrioventricular canal defect Diastasis recti Missing ribs Slender finger Natal tooth Transposition of the great arteries Wheezing Partial agenesis of the corpus callosum Short toe Multicystic kidney dysplasia Hip dislocation Bruising susceptibility Tachycardia Talipes Narrow chest Toe syndactyly Dolichocephaly Neurological speech impairment Microcornea Leukemia Finger syndactyly Skin rash Abnormal cardiac septum morphology Coloboma Craniosynostosis Iris coloboma Postural instability Bone marrow hypocellularity Pancytopenia Leukodystrophy Sinusitis Short thumb Amblyopia Pachygyria Abnormal form of the vertebral bodies Coarctation of aorta Premature birth Eczema Dehydration Long nose Otitis media Growth hormone deficiency Webbed neck Decreased antibody level in blood Ectopic anus Broad columella Mitral stenosis Impulsivity Narrow palpebral fissure Kyphosis Wide nose Short palpebral fissure Large hands Hypsarrhythmia Camptodactyly Hypodontia Unsteady gait Giant cell hepatitis Anodontia Abnormality of metabolism/homeostasis Fat malabsorption Intrahepatic cholestasis Prolonged neonatal jaundice Eosinophilia Jaundice Elevated hepatic transaminase Abnormality of the liver Malabsorption Cirrhosis Hepatic failure Hepatitis Hepatomegaly Steatorrhea Cholestasis Hypergonadotropic hypogonadism Impaired social interactions Agitation Hyperbilirubinemia Abnormality of the coagulation cascade Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Broad hallux phalanx Toe clinodactyly Nuclear cataract Aplasia/Hypoplasia of the earlobes Labial hypoplasia Nasolacrimal duct obstruction Sparse eyebrow Abnormality of the head Long hallux Widely spaced teeth Urethral stenosis U-Shaped upper lip vermilion Central hypothyroidism Clitoral hypoplasia Macular hypoplasia Giant platelets Gingival overgrowth Congenital thrombocytopenia Thick eyebrow Bilateral camptodactyly Arteria lusoria Myopathic facies Delayed ability to walk Thin eyebrow Cerebellar hypoplasia Short distal phalanx of finger Abnormality of the anus Internal hemorrhage Thick vermilion border Highly arched eyebrow Sleep disturbance Cerebellar vermis hypoplasia Annular pancreas Postnatal growth retardation Abnormal lung lobation Hydronephrosis Shallow orbits Gait disturbance Gait ataxia Macrotia Joint laxity Cleft lip Respiratory tract infection Pulmonic stenosis Oral cleft Abnormality of skin pigmentation Pulmonary arterial hypertension Anorexia Aspiration Narrow face Sandal gap Broad face Ataxia Myalgia Vesicoureteral reflux Bulbous nose Arachnodactyly Carious teeth Autoimmunity Arthritis Conductive hearing impairment Subvalvular aortic stenosis Umbilical hernia Polyhydramnios Glaucoma Upslanted palpebral fissure Splenomegaly Six lumbar vertebrae Hypertension Receptive language delay Specific learning disability Sleep apnea Dysarthria Dysphagia EEG abnormality Neonatal hypotonia Apnea Abnormality of the kidney Wide mouth Hypoplasia of the maxilla Triangular face Bifid uvula Delayed myelination Dental malocclusion Abnormality of the cardiovascular system Hypercholesterolemia Patent foramen ovale Central sleep apnea Abnormality of chromosome segregation Expressive language delay Prominent nasal tip Poor fine motor coordination Hypocholesterolemia Abnormal renal morphology Speech apraxia Echolalia Failure to thrive in infancy Poor eye contact High hypermetropia Open bite Abnormality of dental morphology Oral-pharyngeal dysphagia Language impairment Gastrointestinal hemorrhage Tetralogy of Fallot Hypoglycemia Flexion contracture Platybasia Arrhinencephaly Impaired T cell function Abnormal pulmonary valve morphology Anorectal anomaly Retinal arteriolar tortuosity Hypertensive crisis Abnormal aortic arch morphology Multiple suture craniosynostosis Tricuspid atresia Abnormality of the tonsils Occipital myelomeningocele Growth delay Sensorineural hearing impairment Depressed nasal bridge Abnormal aortic valve morphology Prominent forehead Pes planus Retrognathia Osteopenia High forehead Hypogonadism Osteoporosis Recurrent respiratory infections Brachydactyly Agenesis of corpus callosum Cerebral atrophy Syndactyly Congestive heart failure Anteverted nares Ventriculomegaly Small earlobe Seborrheic dermatitis Renal hypoplasia Hyperthyroidism Choanal atresia Aganglionic megacolon Hypocalcemia Abnormality of dental enamel Purpura Hypopigmented skin patches Laryngomalacia Polycystic kidney dysplasia Cholelithiasis Abnormality of the thorax Overfolded helix Chronic otitis media Acne Bowel incontinence Foot polydactyly Hypoplasia of the thymus Abnormal eyelid morphology Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Truncus arteriosus Posterior embryotoxon Meningocele Abnormality of the skull Multiple renal cysts Patellar dislocation Hypoparathyroidism Turricephaly Facial hypotonia


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