Fever, and Anal atresia

Diseases related with Fever and Anal atresia

In the following list you will find some of the most common rare diseases related to Fever and Anal atresia 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

High match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Other less relevant matches:

High match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

ULNAR-MAMMARY SYNDROME Is also known as schinzel syndrome|ums|pallister ulnar-mammary syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR-MAMMARY SYNDROME

INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 Is also known as inflammatory bowel disease, early-onset, autosomal recessive

Related symptoms:

  • Fever
  • Inflammation of the large intestine
  • Colitis
  • Hematochezia
  • Enterocolitis


SOURCES: OMIM MESH MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28

Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation resulting from loss of phagocyte superoxide production (summary by Matute et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see the well-established X-linked recessive cytochrome b-negative form (CGD ).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY Is also known as granulomatous disease, chronic, due to ncf4 deficiency|cgd, autosomal recessive cytochrome b-positive, type iii|x-linked msmd due to cybb deficiency

Related symptoms:

  • Fever
  • Diarrhea
  • Immunodeficiency
  • Skin rash
  • Eczema


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

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

Top 5 symptoms//phenotypes associated to Fever and Anal atresia

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Immunodeficiency Global developmental delay Hypothyroidism Growth delay Neoplasm Ptosis Abnormality of the genital system Fatigue Renal agenesis Weight loss Abnormality of the liver Cataract Pain Recurrent infections Inguinal hernia Cryptorchidism Cleft palate

Rare Symptoms - Less than 30% cases

Psychosis Abnormality of the pinna Congenital cataract Dysmetria Specific learning disability Amenorrhea Tetralogy of Fallot Hallucinations Anal stenosis Spina bifida Anxiety Purpura Schizophrenia Inflammation of the large intestine Basal ganglia calcification Mental deterioration Delayed puberty Umbilical hernia Cerebellar atrophy Cognitive impairment Nausea and vomiting High palate Ventricular septal defect Short neck Hydrocephalus Atrial septal defect Abnormality of cardiovascular system morphology Hypoparathyroidism Thrombocytopenia Hernia Obesity Hypospadias Depressivity Patent ductus arteriosus Abnormal heart morphology Dementia Vitiligo Delusions Hearing abnormality Dysphagia Diarrhea Hypertrophic cardiomyopathy Vomiting Wolff-Parkinson-White syndrome Vertigo Abnormality of immune system physiology Type I diabetes mellitus Hyperthyroidism Upslanted palpebral fissure Hypopigmented skin patches Hypoplasia of the ulna Absent radius Irregular hyperpigmentation Bifid scrotum Intestinal obstruction Abnormality of the uterus Diabetes mellitus Hypogonadism Low-grade fever Muscular hypotonia Seborrheic dermatitis Duodenal stenosis Psychotic episodes Ataxia Nystagmus Failure to thrive Abdominal pain Hepatomegaly Abnormality of the dentition Constipation Hyperreflexia Arrhythmia Ventriculomegaly Respiratory distress Congestive heart failure Renal insufficiency Headache Visual impairment Perimembranous ventricular septal defect Abnormal facial shape Toe syndactyly Posteriorly rotated ears Renal dysplasia Polydactyly Sparse axillary hair Micropenis Abnormality of the foot Hypogonadotrophic hypogonadism Photophobia Carious teeth Choanal atresia Conductive hearing impairment Skin rash Xerostomia Abnormality of the urinary system Small for gestational age Blepharophimosis Hypoplastic nipples Hand polydactyly Hydroureter Split hand Colitis Hypodontia Seizures Oligohydramnios Scoliosis Growth hormone deficiency Vesicoureteral reflux Duplicated collecting system Aplasia/Hypoplasia of the cerebellum Mastocytosis Soft tissue sarcoma Aortic dissection Mask-like facies Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Facial diplegia Cardiorespiratory arrest Schwannoma Drowsiness Personality changes Ophthalmoparesis Overlapping toe Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Neoplasm of the small intestine Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Renal tubular dysfunction Abnormality of neuronal migration Aphasia Adrenal insufficiency Glomerulopathy Atopic dermatitis Distal arthrogryposis Hashimoto thyroiditis Pulmonary embolism Primary adrenal insufficiency Gastrointestinal stroma tumor Thyroiditis Leiomyosarcoma Abnormality of visual evoked potentials Neonatal hypoglycemia Rhabdomyolysis Heart block Progressive sensorineural hearing impairment Transient ischemic attack Mitochondrial myopathy Growth abnormality Progressive external ophthalmoplegia Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Posterior subcapsular cataract Bundle branch block Chronic kidney disease Ragged-red muscle fibers Easy fatigability Abnormal cerebellum morphology Hirsutism Nephropathy Polyneuropathy Coma Postural instability Muscle cramps Generalized myoclonic seizures Polymicrogyria Sudden cardiac death Sensory impairment Neoplasm of the colon Migraine Increased serum lactate Memory impairment Neoplasm of the stomach Nausea Cerebral calcification Ophthalmoplegia Neurological speech impairment Dilated cardiomyopathy Pruritus Generalized tonic-clonic seizures Lethargy Arthrogryposis multiplex congenita Giant hypertrophic gastritis Lactic acidosis Malabsorption Neoplasm of the gastrointestinal tract Paresthesia Confusion Ichthyosis Gastrointestinal obstruction Peripheral axonal neuropathy Hip dysplasia Pigmentary retinopathy Hyperkinesis Pancreatitis Cardiac arrest Truncal ataxia EMG abnormality Generalized hirsutism Exercise intolerance Macular degeneration External ophthalmoplegia Esophageal neoplasm Neoplasm of the rectum Reduced tendon reflexes Visual hallucinations Ischemic stroke Mutism Goiter Clonus Cerebral visual impairment Abnormality of the cardiovascular system Ventricular hypertrophy Generalized-onset seizure Bilateral sensorineural hearing impairment Nephrotic syndrome Type II diabetes mellitus Pulmonary arterial hypertension Status epilepticus Atrial fibrillation Abnormality of retinal pigmentation Hemiparesis Hypertrichosis Involuntary movements Decreased body weight Left ventricular hypertrophy Anorexia Gingival overgrowth Tubulointerstitial nephritis Speech apraxia Increased CSF lactate Hypoplastic toenails Abnormality of the clavicle Sprengel anomaly Hematochezia Short clavicles Enterocolitis Folliculitis Inverted nipples Shawl scrotum Oligodactyly Pyoderma Perianal abscess Short humerus Decreased fertility External genital hypoplasia Pyloric stenosis Hypoplastic scapulae Convex nasal ridge Eczema Tachycardia Short distal phalanx of finger Wide nose Postaxial polydactyly Round face Postaxial hand polydactyly Laryngomalacia Hypoplasia of penis Interphalangeal joint contracture of finger Renal hypoplasia Abnormality of the fingernails Abnormality of the metacarpal bones Hypoplasia of the radius Abnormality of finger Abnormality of the wrist Camptodactyly of finger Abnormality of the radius Wide nasal base Aplasia of the ulna Abnormality of the humerus Ectopic posterior pituitary Anterior pituitary hypoplasia Absent hand Breast aplasia Abnormal external genitalia Abnormality of temperature regulation Laryngeal stenosis Gastroschisis Aplasia/Hypoplasia of the ulna Broad eyebrow Subglottic stenosis Body odor Absent axillary hair Unilateral oligodactyly Broad face Ectopic anus Supraventricular tachycardia Axillary apocrine gland hypoplasia Deformed radius Sparse lateral eyebrow Long uvula Short 5th toe Hernia of the abdominal wall Gonadotropin deficiency Short 4th toe Breast hypoplasia Imperforate hymen Aplasia of the pectoralis major muscle Laryngeal web Pectus carinatum Camptodactyly Paraganglioma Psychomotor deterioration Sarcoma Motor polyneuropathy Eosinophilia Dysesthesia Hyperpigmentation of the skin Gastrointestinal hemorrhage Muscle fiber atrophy Abnormality of the renal tubule Abdominal distention Pallor Coarse facial features Perianal rash Writer's cramp Persistence of primary teeth Episodic vomiting Urticaria Spontaneous hematomas Lipoma Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Left ventricular failure Retinal pigment epithelial atrophy Hemianopia Abnormality of peripheral nerve conduction Neurofibromas Hypermelanotic macule Proximal tubulopathy Ileus Large hands Leber optic atrophy Gastroparesis Mandibular prognathia Morphological abnormality of the vestibule of the inner ear Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Recurrent aphthous stomatitis Cochlear degeneration Morphological abnormality of the inner ear Recurrent sinusitis Recurrent bacterial infections Prominent ear helix Hyperhidrosis Sinusitis Abnormal mitochondrial shape Progressive night blindness Amaurosis fugax Hemeralopia Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Abnormality of the cerebellar vermis Crohn's disease Abnormal macular morphology Attention deficit hyperactivity disorder Spotty hypopigmentation Perioral eczema Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Stroke Almond-shaped palpebral fissure Nyctalopia Arnold-Chiari malformation Autoimmune hemolytic anemia Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Acne Unilateral renal agenesis Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Nasal speech Abnormality of the hand Bicuspid aortic valve Submucous cleft hard palate Underdeveloped nasal alae Autoimmunity Pulmonic stenosis Bulbous nose Hemolytic anemia Bifid uvula Chorea Peripheral demyelination Holoprosencephaly Low posterior hairline Primary amenorrhea Open mouth Hypocalcemia Multicystic kidney dysplasia Narrow palpebral fissure Axonal loss Autoimmune thrombocytopenia Arthritis Vascular ring Giant platelets Velopharyngeal insufficiency Conotruncal defect Aplasia of the thymus Arteria lusoria Central nervous system degeneration Perineal fistula Paranoia Congenital conductive hearing impairment Right aortic arch with mirror image branching Sacral meningocele Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Micrognathia Retinal vascular tortuosity Impaired T cell function Posterior embryotoxon Abnormality of the endocrine system Bipolar affective disorder Meningocele Pierre-Robin sequence Truncus arteriosus Myelomeningocele Echolalia Pulmonary artery atresia Right aortic arch Juvenile rheumatoid arthritis Aplasia of the uterus Graves disease Interrupted aortic arch Platybasia Mood swings Aggressive behavior Retrognathia Epicanthus Nail dysplasia Absent septum pellucidum Epiphora Keratitis Preaxial polydactyly Abnormality of the genitourinary system Oligodontia Sparse eyelashes Conjunctivitis Sparse and thin eyebrow Hypohidrosis Omphalocele Thin skin Sparse scalp hair Microdontia Ectodermal dysplasia Ectrodactyly Telecanthus Malar flattening Syndactyly Alopecia Recurrent respiratory infections Hyperkeratosis Hydronephrosis Cleft lip Broad nasal tip Microtia Short philtrum Cleft upper lip Oral cleft Pulmonary hypoplasia Hypoplasia of the maxilla Hypopituitarism Blepharitis Hyperactivity Absence of Stensen duct Ureterocele Semilobar holoprosencephaly Dacryocystitis Urethral atresia Abnormal salivary gland morphology Transverse vaginal septum Slow-growing scalp hair Abnormality of the nasopharynx Generalized hypotonia Delayed speech and language development Hypoplasia of the corpus callosum Intellectual disability, severe Behavioral abnormality Absent speech Nail pits Nasolacrimal duct obstruction Split foot Heat intolerance Bilateral cleft lip Depressed nasal tip Blue irides Fair hair Anodontia Generalized hypopigmentation Dysuria Selective tooth agenesis Rectovaginal fistula Sparse pubic hair Hypoplasia of the thymus Recurrent corneal erosions Bladder diverticulum Central diabetes insipidus Strabismus Intrauterine growth retardation Erythema Prolonged G2 phase of cell cycle Dysarthria Peripheral neuropathy Hypertension Motor delay Feeding difficulties Muscle weakness Sensorineural hearing impairment Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Abnormal carotid artery morphology Optic atrophy Aplasia/Hypoplasia of the iris Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology Abnormality of nervous system morphology Primary hypothyroidism Meckel diverticulum Complete duplication of thumb phalanx Compensated hypothyroidism Partial duplication of thumb phalanx Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Absent testis Skeletal muscle atrophy Tremor Abnormal renal morphology Jaundice Cerebral cortical atrophy Gait ataxia Autism Dyspnea Acidosis Gastroesophageal reflux EEG abnormality Myoclonus Myalgia Proteinuria Apnea Feeding difficulties in infancy Developmental regression Protruding ear Osteoporosis Rod-cone dystrophy Gait disturbance Kyphosis Respiratory insufficiency Cardiomyopathy Blindness Myopathy Hypertonia Dystonia Cerebral atrophy Cerebellar hypoplasia Encephalopathy Visual loss Areflexia Hyporeflexia Elevated serum creatine phosphokinase Delayed skeletal maturation Abnormal localization of kidney Abnormal aortic valve morphology Frontal bossing Pancytopenia Abnormality of skin pigmentation Bruising susceptibility Neutropenia Hypopigmentation of the skin Lymphoma Sloping forehead Short palpebral fissure Facial asymmetry Aganglionic megacolon Recurrent urinary tract infections Telangiectasia Cafe-au-lait spot Short thumb Insulin resistance Astigmatism Dolichocephaly Hypergonadotropic hypogonadism Carcinoma Abnormality of the skeletal system Microphthalmia Clinodactyly of the 5th finger Severe short stature Proptosis Pes planus Abnormality of the eye Hip dislocation Abnormality of the kidney Irritability Postnatal growth retardation Abnormal cardiac septum morphology Leukemia Finger syndactyly Abnormal vertebral morphology Bone marrow hypocellularity Abnormality of the hypothalamus-pituitary axis B-cell lymphoma Aplasia/Hypoplasia of the radius External ear malformation Chromosome breakage Abnormal eyelid morphology Abnormality of the ulna Arteriovenous malformation Abnormality of the upper limb Acute myeloid leukemia Aplastic anemia Abnormality of the testis Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Acute monocytic leukemia Abnormality of blood and blood-forming tissues Multiple cafe-au-lait spots Horseshoe kidney Hyperinsulinemia Leukopenia Azoospermia Cranial nerve paralysis Renal hypoplasia/aplasia Reduced bone mineral density Abnormality of vision Myelodysplasia Myeloid leukemia Triphalangeal thumb Tracheoesophageal fistula Glucose intolerance Squamous cell carcinoma Ectopic kidney Absent thumb Lymphadenopathy


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