Abnormal facial shape, and Bipolar affective disorder

Diseases related with Abnormal facial shape and Bipolar affective disorder

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


Top matches:

Medium match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Medium match 15Q13.3 MICRODELETION 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

Medium match 17P11.2 MICRODUPLICATION 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

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Other less relevant matches:

Medium match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Medium match 3Q29 MICRODELETION 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

Medium match VELOCARDIOFACIAL SYNDROME


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

Medium match DIGEORGE SYNDROME; DGS


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

Medium match 22Q11.2 DELETION 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

Medium 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

Low match SCHIZOPHRENIA 19; SCZD19


SCHIZOPHRENIA 19; SCZD19 Is also known as schizophrenia 19 with or without an affective disorder

Related symptoms:

  • Behavioral abnormality
  • Psychosis
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 19; SCZD19

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Bipolar affective disorder

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Behavioral abnormality Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Schizophrenia

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Anxiety

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Immunodeficiency

Uncommon Symptoms - Between 30% and 50% cases


Psychosis Micrognathia Acne Hypothyroidism Inguinal hernia Patent ductus arteriosus Cleft palate Attention deficit hyperactivity disorder Short stature Hearing impairment Abnormality of cardiovascular system morphology Depressivity Scoliosis Muscular hypotonia Nasal speech Cognitive impairment High palate Hypospadias Strabismus Microphthalmia Delayed speech and language development Hydrocephalus Ventricular septal defect Obesity Abnormal heart morphology Spina bifida Abnormality of the dentition Short neck Downslanted palpebral fissures Low-set ears Thrombocytopenia Epicanthus Atrial septal defect Hypertelorism Telecanthus Bifid uvula Small for gestational age Ptosis Feeding difficulties in infancy Hypoparathyroidism Arteria lusoria Arthritis Meningocele Purpura Hypocalcemia Tetralogy of Fallot Specific learning disability Bulbous nose Anal atresia Autoimmunity Umbilical hernia Hernia Retrognathia Recurrent infections Short philtrum Posteriorly rotated ears Truncus arteriosus Posterior embryotoxon Seborrheic dermatitis Impaired T cell function Gastroesophageal reflux Cholelithiasis Autism Hypoplasia of the corpus callosum Osteoporosis Bruising susceptibility Wide nasal bridge Generalized hypotonia Frontal bossing Hypertension Hyperactivity Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Low posterior hairline Hemolytic anemia Chorea Vesicoureteral reflux Renal agenesis Recurrent fractures Amenorrhea Sleep disturbance Renal dysplasia Primary amenorrhea Thin skin Joint hyperflexibility Infertility Multicystic kidney dysplasia Lethargy Holoprosencephaly Bicuspid aortic valve Arnold-Chiari malformation Round face Long face Generalized hyperpigmentation Aortic valve stenosis Anemia Horseshoe kidney Fever Telangiectasia of the skin Truncal obesity Menorrhagia Premature ovarian insufficiency Lipodystrophy Hypokalemia Nephrolithiasis Recurrent skin infections Venous thrombosis Single transverse palmar crease Conductive hearing impairment Generalized hirsutism Rheumatoid arthritis Abnormality of the pinna Blepharophimosis Abdominal pain Autoimmune hemolytic anemia Psoriasiform dermatitis Tetany Flexion contracture Narrow mouth Hydronephrosis Visual impairment Craniosynostosis Iris coloboma Coarctation of aorta Amblyopia Hypoplasia of the thymus Right aortic arch with mirror image branching Cryptorchidism Intrauterine growth retardation Optic atrophy Talipes equinovarus Long philtrum Constipation Intestinal malrotation Hand polydactyly Abnormal thrombocyte morphology Sacral meningocele Fatigue Unilateral renal agenesis Myopathy Inflammation of the large intestine Pulmonic stenosis Autoimmune thrombocytopenia Diabetes mellitus Vitiligo Visual loss Headache Myelomeningocele Juvenile rheumatoid arthritis Aplasia of the uterus Aplasia of the thymus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Platybasia Right aortic arch Duodenal stenosis Retinal vascular tortuosity Giant platelets Conotruncal defect Facial asymmetry Cardiomyopathy Prominent nasal bridge Osteopenia Pituitary adenoma Onychomycosis Clinodactyly Pectus excavatum Metrorrhagia Feeding difficulties Short nose Macrocephaly Mental deterioration Abnormality of the pharynx Adrenal hyperplasia Echolalia Dysphasia Trigonocephaly Infantile muscular hypotonia Stereotypy Dental crowding Smooth philtrum Abnormality of the kidney Low-set, posteriorly rotated ears Clinodactyly of the 5th finger Neoplasm Intellectual disability, moderate Aggressive behavior Thin upper lip vermilion Aseptic necrosis Cleft lip Sensorineural hearing impairment Growth delay Annular pancreas Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Abnormal aortic arch morphology Multiple suture craniosynostosis Depressed nasal bridge Internal hemorrhage Bilateral camptodactyly Hypertensive crisis Retinal arteriolar tortuosity Spasticity Aplasia/Hypoplasia of the earlobes Brachydactyly Prominent forehead Toe clinodactyly Hypoglycemia Pes planus High forehead Abnormality of the anus Hypogonadism Recurrent respiratory infections Ventriculomegaly Agenesis of corpus callosum Cerebral atrophy Syndactyly Congestive heart failure Anteverted nares Abnormal pulmonary valve morphology Anorectal anomaly Small earlobe Arrhinencephaly Bowel incontinence Asthma Gastrointestinal hemorrhage Megakaryocyte dysplasia Renal hypoplasia Choanal atresia Aganglionic megacolon Abnormality of dental enamel Hypopigmented skin patches Laryngomalacia Polycystic kidney dysplasia Neonatal hypotonia Abnormality of the thorax Overfolded helix Chronic otitis media Hyperthyroidism Postnatal growth retardation Varicose veins Abnormal aortic valve morphology EEG abnormality Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Abnormal eyelid morphology Foot polydactyly Congenital thrombocytopenia Abnormality of the skull Multiple renal cysts Patellar dislocation Turricephaly Abnormal lung lobation Camptodactyly Skin rash Coloboma Missing ribs Chorioretinal coloboma Heart murmur Hammertoe Flat occiput Aplasia/Hypoplasia of the eyebrow Hypoplastic left heart Atrioventricular canal defect Partial agenesis of the corpus callosum Slender finger Natal tooth Transposition of the great arteries Wheezing Abnormal eyelash morphology Double outlet right ventricle Diastasis recti Pyloric stenosis Ectopic anus Broad columella Nuclear cataract Broad hallux phalanx Nasolacrimal duct obstruction Mitral stenosis Abnormality of the head Long hallux Retinal dysplasia Urethral stenosis U-Shaped upper lip vermilion Duodenal atresia Eyelid coloboma Central hypothyroidism Chronic constipation Ectropion Tachypnea Abnormal cardiac septum morphology Toe syndactyly Postural instability Carious teeth Microcornea Tachycardia Talipes Narrow chest Dolichocephaly Decreased antibody level in blood Hip dislocation Neurological speech impairment Leukemia Macular hypoplasia Finger syndactyly Labial hypoplasia Premature birth Webbed neck Abnormal palate morphology Short thumb Azoospermia Bone marrow hypocellularity Leukodystrophy Clitoral hypoplasia Short toe Sinusitis Pachygyria Growth hormone deficiency Abnormal form of the vertebral bodies Pancytopenia Eczema Dehydration Microdontia Otitis media Arachnodactyly Parathyroid hypoplasia Myalgia Dysdiadochokinesis Neoplasm of the endocrine system Increased circulating cortisol level Subarachnoid hemorrhage Open mouth Striae distensae Hallucinations Orthostatic hypotension Agitation Increased body weight Narrow palpebral fissure Memory impairment Hypotension Hirsutism Abnormality of the hand Myopia Abdominal obesity Basal ganglia calcification Central sleep apnea Receptive language delay Anal stenosis Submucous cleft hard palate Axonal loss Muscle weakness Abnormality of the ear Kyphosis Myopathic facies Skeletal muscle atrophy Hypoplasia of the brainstem Edema Obsessive-compulsive behavior Apathy Peripheral demyelination Decreased circulating ACTH level Hearing abnormality Anorexia Broad face Shallow orbits Sandal gap Joint laxity Narrow face Aspiration Pulmonary arterial hypertension Six lumbar vertebrae Prominent nose Tapered finger Everted lower lip vermilion Respiratory tract infection Abnormality of skin pigmentation Oral cleft Subvalvular aortic stenosis Macrotia Mood changes Ataxia Underdeveloped nasal alae Moon facies Dorsocervical fat pad Macronodular adrenal hyperplasia Primary hypercortisolism Dysmetria Congenital cataract Gait ataxia Gait disturbance Dysarthria Dementia Absent speech Cerebellar atrophy Intellectual disability, severe Expressive language delay Prominent nasal tip Polyhydramnios Abnormality of the thymus Delayed myelination High, narrow palate Triangular face Short palpebral fissure Broad thumb Hypoplasia of the maxilla Exotropia Sclerocornea Anterior segment developmental abnormality Hypermetropia Femoral hernia Alcoholism Perisylvian polymicrogyria Abnormality of the middle ear Vascular tortuosity Astigmatism Wide mouth Glaucoma Upslanted palpebral fissure Apnea Malar flattening Splenomegaly Autistic behavior Broad forehead Esophoria Dysphagia Type I truncus arteriosus Parathyroid agenesis Pectus carinatum Decreased circulating parathyroid hormone level Accommodative esotropia Polymicrogyria Generalized tonic-clonic seizures Delusions Abnormality of chromosome segregation Paranoia Open bite Mandibular prognathia Mood swings High hypermetropia Poor eye contact Speech apraxia Oral-pharyngeal dysphagia Abnormal renal morphology Hypocholesterolemia Pulmonary artery atresia Abnormality of the endocrine system Poor fine motor coordination Pierre-Robin sequence Abnormality of dental morphology Velopharyngeal insufficiency Microtia Unilateral lung agenesis Dental malocclusion Abnormality of the cardiovascular system Hypertonia Hypercholesterolemia Sleep apnea Unilateral primary pulmonary dysgenesis Patent foramen ovale Language impairment Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Failure to thrive in infancy Psychotic episodes Abnormality of the curvature of the vertebral column



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