Hypertelorism, and Bipolar affective disorder

Diseases related with Hypertelorism and Bipolar affective disorder

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

Top 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

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

Other less relevant matches:

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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

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

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:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, 18; AUTS18

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Abnormal facial shape Anxiety Abnormality of cardiovascular system morphology Attention deficit hyperactivity disorder Scoliosis Low-set ears Atrial septal defect Abnormality of the dentition Delayed speech and language development Behavioral abnormality Microphthalmia Cleft palate Autism Strabismus Hypothyroidism Failure to thrive Epicanthus Hearing impairment Patent ductus arteriosus Inguinal hernia Muscular hypotonia Frontal bossing Intellectual disability, moderate Schizophrenia Thrombocytopenia Constipation Thin upper lip vermilion Small for gestational age Smooth philtrum Ptosis Hydrocephalus Ventricular septal defect Short neck Hypospadias Cataract Nasal speech Spina bifida Immunodeficiency Short philtrum Telecanthus Feeding difficulties in infancy Macrocephaly High palate Abnormal heart morphology Generalized hypotonia Cognitive impairment Obesity Gastroesophageal reflux Wide nasal bridge Pectus excavatum Intellectual disability, mild Depressivity

Rare Symptoms - Less than 30% cases

Coarctation of aorta Intestinal malrotation Specific learning disability Tetralogy of Fallot Iris coloboma Long face Ventriculomegaly Craniosynostosis Bulbous nose Psychosis Autoimmunity Joint hyperflexibility Cleft lip Single transverse palmar crease Hydronephrosis Umbilical hernia Retrognathia Narrow mouth Posteriorly rotated ears Hand polydactyly Anal atresia Arteria lusoria Amblyopia Tetany Impaired T cell function Horseshoe kidney Aortic valve stenosis Wide nose Cryptorchidism Intrauterine growth retardation Hypoplasia of the thymus Optic atrophy Seborrheic dermatitis Talipes equinovarus Truncus arteriosus Prominent nasal bridge Long philtrum Meningocele Hypoparathyroidism Posterior embryotoxon Pectus carinatum Acne Unilateral renal agenesis Cholelithiasis Everted lower lip vermilion Purpura Hypocalcemia Tapered finger Arthritis Recurrent infections Clinodactyly Abnormal thrombocyte morphology Dysphasia Feeding difficulties Trigonocephaly Infantile muscular hypotonia Stereotypy Dental crowding Clinodactyly of the 5th finger Bifid uvula Aggressive behavior Triangular face Hernia Hyperactivity Short nose Depressed nasal bridge Autistic behavior Abnormality of the kidney Low-set, posteriorly rotated ears Abnormality of the pharynx Pes planus Flexion contracture Hypoplasia of the corpus callosum Facial asymmetry Growth hormone deficiency Toe syndactyly Hip dislocation Short toe Agenesis of corpus callosum Microcornea Dolichocephaly Leukodystrophy Pyloric stenosis Cerebral atrophy Narrow chest Syndactyly Recurrent respiratory infections Talipes Tachycardia Bone marrow hypocellularity Congestive heart failure Multicystic kidney dysplasia Bruising susceptibility Holoprosencephaly Azoospermia Abnormal palate morphology Tachypnea Postural instability Prominent forehead Otitis media Pancytopenia Skin rash Finger syndactyly Microdontia Abnormal cardiac septum morphology Dehydration Coloboma Postnatal growth retardation Camptodactyly Eczema Webbed neck Hypoglycemia Decreased antibody level in blood Neurological speech impairment Cortical gyral simplification Premature birth Osteopenia High forehead Abnormal form of the vertebral bodies Pachygyria Leukemia Hypogonadism Short thumb Sinusitis Osteoporosis Nephrocalcinosis Duodenal atresia Ectropion Hypertension Oral cleft Pulmonic stenosis Respiratory tract infection Joint laxity Macrotia Gait ataxia Gait disturbance Ataxia Prominent nose Abnormality of the curvature of the vertebral column Obsessive-compulsive trait Synophrys Thick eyebrow Megakaryocyte dysplasia Sloping forehead Cerebellar vermis hypoplasia Abnormality of skin pigmentation Pulmonary arterial hypertension Congenital thrombocytopenia Pointed chin Generalized-onset seizure Focal-onset seizure Hyperparathyroidism Highly arched eyebrow Thin vermilion border Absent speech Prominent supraorbital ridges Tall stature Anorexia Sleep disturbance Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Sandal gap Narrow face Aspiration Impulsivity Bilateral camptodactyly Chorioretinal coloboma Natal tooth Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Wheezing Transposition of the great arteries Slender finger Eyelid coloboma Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Chronic constipation Obsessive-compulsive behavior Internal hemorrhage Urethral stenosis Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Long hallux Ectopic anus Abnormality of the head Nasolacrimal duct obstruction Broad columella Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Macular hypoplasia Upslanted palpebral fissure Anteverted nares Microtia Chorea High, narrow palate Hemolytic anemia Polymicrogyria Astigmatism Generalized tonic-clonic seizures Blepharophimosis Amenorrhea Abnormality of the pinna Hypertonia Fever Anemia Neoplasm Receptive language delay Renal agenesis Low posterior hairline Expressive language delay Inflammation of the large intestine Juvenile rheumatoid arthritis Myelomeningocele Sclerocornea Vitiligo Autoimmune thrombocytopenia Autoimmune hemolytic anemia Psoriasiform dermatitis Short palpebral fissure Rheumatoid arthritis Arnold-Chiari malformation Bicuspid aortic valve Exotropia Broad thumb Renal dysplasia Primary amenorrhea Central sleep apnea Prominent nasal tip Aplasia of the uterus Mandibular prognathia Hypermetropia Broad forehead Wide mouth Apnea Neonatal hypotonia EEG abnormality Dysphagia Delayed myelination Myopia Dysarthria Anodontia Large hands Oligodontia Kyphosis Hypoplasia of the maxilla Dental malocclusion Poor fine motor coordination High hypermetropia Hypocholesterolemia Abnormal renal morphology Speech apraxia Abnormality of chromosome segregation Echolalia Poor eye contact Open bite Abnormality of the cardiovascular system Abnormality of dental morphology Oral-pharyngeal dysphagia Language impairment Failure to thrive in infancy Patent foramen ovale Sleep apnea Hypercholesterolemia Anterior segment developmental abnormality Graves disease Brachydactyly Turricephaly Atelectasis Varicose veins Abnormal eyelid morphology Abnormality of the skull Multiple renal cysts Patellar dislocation Abnormal lung lobation Abnormality of the uterus Foot polydactyly Hyperthyroidism Bowel incontinence Chronic otitis media Overfolded helix Abnormality of the thorax Chronic obstructive pulmonary disease Corneal neovascularization Laryngomalacia Multiple suture craniosynostosis Spasticity Sensorineural hearing impairment Growth delay Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Abnormal aortic arch morphology Abnormal aortic valve morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Arrhinencephaly Platybasia Small earlobe Polycystic kidney dysplasia Hypopigmented skin patches Interrupted aortic arch Abnormality of the thymus Accommodative esotropia Esophoria Right aortic arch with mirror image branching Aplasia of the thymus Conotruncal defect Vascular tortuosity Abnormality of the middle ear Decreased circulating parathyroid hormone level Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Right aortic arch Alcoholism Femoral hernia Perimembranous ventricular septal defect Sacral meningocele Parathyroid hypoplasia Abnormality of dental enamel Arachnodactyly Aganglionic megacolon Choanal atresia Renal hypoplasia Gastrointestinal hemorrhage Vesicoureteral reflux Asthma Carious teeth Parathyroid agenesis Myalgia Conductive hearing impairment Polyhydramnios Glaucoma Malar flattening Splenomegaly Type I truncus arteriosus Bimanual synkinesia


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