Fever, and Holoprosencephaly

Diseases related with Fever and Holoprosencephaly

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

Top matches:

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

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

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Other less relevant matches:

Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.

Related symptoms:

  • Neoplasm
  • Pain
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about INFLAMMATORY MYOFIBROBLASTIC TUMOR

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY

Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Is also known as myd88 deficiency|pyogenic bacterial infections, recurrent, due to myd88 deficiency|recurrent pyogenic bacterial infections due to myd88 deficiency

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent bacterial skin infections


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY

Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5; IIAE5 Is also known as herpes simplex encephalitis, susceptibility to, 3

Related symptoms:

  • Seizures
  • Fever
  • Diarrhea
  • Aphasia


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5; IIAE5

Low match TUBERCULOSIS

Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.

Related symptoms:

  • Fever
  • Fatigue
  • Weight loss
  • Cough
  • Abnormal lung morphology


SOURCES: ORPHANET MENDELIAN

More info about TUBERCULOSIS

EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

Top 5 symptoms//phenotypes associated to Fever and Holoprosencephaly

Symptoms // Phenotype % cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Holoprosencephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Posteriorly rotated ears Renal agenesis Hearing impairment Microcephaly Cleft palate

Rare Symptoms - Less than 30% cases

Ventricular septal defect Split hand Abnormality of the genital system Renal dysplasia Abnormality of the urinary system Diarrhea Short stature Generalized hypotonia Abnormal facial shape Muscular hypotonia Cataract High palate Hypoplasia of the corpus callosum Short neck Unilateral renal agenesis Hydrocephalus Ptosis Intellectual disability, severe Choanal atresia Abnormality of cardiovascular system morphology Hypospadias Patent ductus arteriosus Abnormal heart morphology Hyperactivity Retrognathia Aggressive behavior Peripheral demyelination Multicystic kidney dysplasia Behavioral abnormality Atrial septal defect Oligohydramnios Anal atresia Skeletal muscle atrophy Hydronephrosis Syndactyly Toe syndactyly Inguinal hernia Conductive hearing impairment Hypertelorism Vesicoureteral reflux Blepharophimosis Micropenis Cryptorchidism Polydactyly Pulmonary hypoplasia Congenital diaphragmatic hernia Abnormality of the ribs Coarctation of aorta Webbed neck Wide intermamillary distance Dandy-Walker malformation Eczema Limb undergrowth Ambiguous genitalia Narrow forehead Decreased fetal movement Hypoplasia of penis Muscle fibrillation Postaxial hand polydactyly Recurrent otitis media Intellectual disability, profound Short toe Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Abnormal dermatoglyphics Hypercholesterolemia Bilateral ptosis Abnormality of dental enamel Hyperbilirubinemia Short thumb Renal hypoplasia Gingival overgrowth Rhizomelia Amblyopia Dental crowding Aganglionic megacolon Abnormal form of the vertebral bodies Premature birth Cutaneous photosensitivity Intestinal malrotation Hypopigmentation of the skin Renal cyst Talipes equinovarus Microphthalmia Long philtrum Short nose Kyphosis Hypertonia Vomiting Edema Anteverted nares Ventriculomegaly Downslanted palpebral fissures Cerebellar hypoplasia Optic atrophy Intrauterine growth retardation Wide nasal bridge Brachydactyly Epicanthus Hypertension Depressed nasal bridge Feeding difficulties Flexion contracture Constipation Severe short stature Abnormality of the metacarpal bones Feeding difficulties in infancy Sleep disturbance Iris coloboma Postaxial polydactyly Micromelia Hip dislocation Finger syndactyly Attention deficit hyperactivity disorder Wide mouth Autistic behavior Abnormality of the kidney Upslanted palpebral fissure Low-set, posteriorly rotated ears Intellectual disability, moderate Hypoglycemia Skeletal dysplasia Gastroesophageal reflux Polyhydramnios Proptosis Autism Glaucoma Renal hypoplasia/aplasia Hyponatremia Optic nerve hypoplasia Bifid tongue Abnormal localization of kidney Aplasia/Hypoplasia affecting the eye Abnormal renal morphology Gastrointestinal dysmotility Abnormality of the larynx Cholestatic liver disease Bicornuate uterus Breech presentation Overlapping fingers Decreased circulating aldosterone level Sex reversal Excessive daytime somnolence Tracheal stenosis Sclerocornea Severe failure to thrive Microglossia Male pseudohermaphroditism Postaxial foot polydactyly Hypocholesterolemia Advanced eruption of teeth Upper limb undergrowth Hypoplasia of the frontal lobes Opsoclonus Facial capillary hemangioma Alveolar ridge overgrowth Sleep-wake cycle disturbance Abnormality of limbs Elevated 7-dehydrocholesterol Septate vagina Abnormality of the gallbladder Periventricular gray matter heterotopia Ureteropelvic junction obstruction Talipes calcaneovalgus Increased serum testosterone level Hip subluxation Median cleft palate Mesomelic short stature Broad alveolar ridges Gastroschisis Increased nuchal translucency Ectopic calcification Self-mutilation Abnormal eyelash morphology Reduced number of teeth Bifid scrotum 2-3 toe syndactyly Overlapping toe Metatarsus adductus Cutis marmorata Abnormality of dental morphology Abnormal lung morphology Aplasia/Hypoplasia of the cerebellum Pneumonia Hammertoe Adrenal insufficiency Clitoral hypertrophy Proximal placement of thumb Pectus carinatum Self-injurious behavior Severe photosensitivity Precocious puberty Pyloric stenosis Poor suck Cough Weight loss Severe intrauterine growth retardation Neoplasm Abnormal lung lobation Epiphyseal stippling Hypopigmentation of hair Aplasia/Hypoplasia of the radius Ulnar deviation of finger Increased number of teeth Biparietal narrowing Abnormality of digit Pain Fatigue Lymphadenopathy Abnormality of immune system physiology Recurrent bacterial skin infections Peripheral neuropathy Atrioventricular canal defect Mesomelia Hyperkalemia Lower limb muscle weakness Aphasia Low-set ears Platybasia Spasticity Hypoplasia of the thymus Nail pits Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Sparse pubic hair Semilobar holoprosencephaly Rectovaginal fistula Dysuria Heat intolerance Sparse axillary hair Generalized hypopigmentation Anodontia Fair hair Blue irides Ureterocele Dacryocystitis Bilateral cleft lip Thrombocytopenia Anxiety Arthritis Umbilical hernia Hypothyroidism Dementia Depressivity Obesity Hernia Absent speech Urethral atresia Cerebellar atrophy Delayed speech and language development Anemia Cognitive impairment Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Depressed nasal tip Split foot Abnormality of the pinna Small for gestational age Ectodermal dysplasia Broad nasal tip Hypodontia Hypoplasia of the maxilla Oral cleft Cleft upper lip Abnormality of the foot Carious teeth Short philtrum Nail dysplasia Microtia Cleft lip Telecanthus Photophobia Hyperkeratosis Recurrent respiratory infections Alopecia Malar flattening Growth hormone deficiency Microdontia Blepharitis Hand polydactyly Xerostomia Hypoplastic nipples Ectrodactyly Hypopituitarism Absent septum pellucidum Hydroureter Epiphora Keratitis Preaxial polydactyly Sparse scalp hair Abnormality of the genitourinary system Oligodontia Sparse eyelashes Conjunctivitis Hypogonadotrophic hypogonadism Sparse and thin eyebrow Hypohidrosis Omphalocele Thin skin Mental deterioration Autoimmunity Sensorineural hearing impairment Juvenile rheumatoid arthritis Impaired T cell function Right aortic arch Mood swings Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Pulmonary artery atresia Paranoia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Meningocele Hearing abnormality Duodenal stenosis Retinal vascular tortuosity Vitiligo Right aortic arch with mirror image branching Strabismus Micrognathia Failure to thrive Nystagmus Growth delay Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Congenital conductive hearing impairment Giant platelets Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Hypoparathyroidism Bipolar affective disorder Congenital cataract Tetralogy of Fallot Narrow palpebral fissure Hypocalcemia Spina bifida Hallucinations Open mouth Primary amenorrhea Low posterior hairline Psychosis Amenorrhea Bicuspid aortic valve Specific learning disability Underdeveloped nasal alae Chorea Bifid uvula Hemolytic anemia Bulbous nose Dysmetria Pulmonic stenosis Purpura Arnold-Chiari malformation Posterior embryotoxon Inflammation of the large intestine Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Schizophrenia Acne Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Nasal speech Abnormality of the hand Halitosis


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