Fever, and Bifid uvula

Diseases related with Fever and Bifid uvula

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

Top matches:

Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

High match PGM1-CDG

Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

High match OHDO SYNDROME

OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OHDO SYNDROME

Other less relevant matches:

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

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

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Low 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

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

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

Crisponi/cold-induced sweating syndrome-3 is an autosomal recessive disorder characterized by infantile-onset hyperthermia and abnormal paroxysmal contractions of the facial and oropharyngeal muscles, resulting in feeding and respiratory difficulties. Other features include joint contractures and camptodactyly. Death in infancy may occur, and those that survive may develop retinitis pigmentosa later in childhood. Individuals with some forms of Crisponi syndrome may develop paradoxical cold-induced sweating later in childhood, although this is a variable finding (summary by Angius et al., 2016).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Flexion contracture
  • High palate
  • Feeding difficulties
  • Depressed nasal bridge
  • Fever


SOURCES: OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 3; CISS3

Top 5 symptoms//phenotypes associated to Fever and Bifid uvula

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Atrial septal defect Retrognathia Ventricular septal defect Abnormal facial shape Cryptorchidism Microcephaly Hearing impairment High palate Bulbous nose Blepharophimosis Ptosis Posteriorly rotated ears Low-set ears Abnormality of cardiovascular system morphology Depressed nasal bridge Patent ductus arteriosus Specific learning disability Flexion contracture Scoliosis Thrombocytopenia Tetralogy of Fallot Hypoplasia of the corpus callosum Cognitive impairment Short neck Growth delay Nasal speech Abnormality of the pinna Umbilical hernia Generalized hypotonia Renal agenesis Inguinal hernia Failure to thrive Interphalangeal joint contracture of finger Abnormal heart morphology Sloping forehead Feeding difficulties Obesity Hypertelorism Spina bifida Microtia Anteverted nares Hydrocephalus Hypertonia Short palpebral fissure Delayed speech and language development Clinodactyly of the 5th finger Severe short stature Anemia Narrow mouth Duodenal stenosis Perimembranous ventricular septal defect Submucous cleft hard palate Anal atresia Respiratory distress Immunodeficiency Hypogonadism Dyspnea Hyperhidrosis Camptodactyly Autoimmunity Pes planus Dolichocephaly Abnormality of the kidney

Rare Symptoms - Less than 30% cases

Amenorrhea Inflammation of the large intestine Cholelithiasis Rheumatoid arthritis Psoriasiform dermatitis Unilateral renal agenesis Hemolytic anemia Acne Autoimmune hemolytic anemia Schizophrenia Autoimmune thrombocytopenia Upslanted palpebral fissure Anal stenosis Posterior embryotoxon Bipolar affective disorder Vitiligo Hypoparathyroidism Irritability Abnormality of the genital system Full cheeks Purpura Round face Low posterior hairline Wide nose Primary amenorrhea Renal dysplasia Cold-induced sweating Hypocalcemia Bicuspid aortic valve Arnold-Chiari malformation Underdeveloped nasal alae Mandibular prognathia Chorea Abnormality of the uterus Meningocele Absent radius Hypoplasia of the ulna Recurrent urinary tract infections Hearing abnormality Microphthalmia Truncus arteriosus Malar flattening Aplasia of the thymus Arteria lusoria Postnatal growth retardation Apnea Proptosis Micropenis Sacral meningocele Polydactyly Respiratory insufficiency Small for gestational age Abnormality of the skeletal system Intrauterine growth retardation Spasticity Neoplasm Coarctation of aorta Polymicrogyria Astigmatism Attention deficit hyperactivity disorder Strabismus Conotruncal defect Short palm Renal insufficiency Graves disease Hydronephrosis Myelomeningocele Abnormality of finger Short humerus Juvenile rheumatoid arthritis Seborrheic dermatitis Hydroureter Aplasia of the uterus Interrupted aortic arch Velopharyngeal insufficiency Abnormality of the urinary system Right aortic arch Impaired T cell function Abnormality of the metacarpal bones Elbow flexion contracture Retinal vascular tortuosity Short thumb Renal hypoplasia Oligohydramnios Right aortic arch with mirror image branching Hip dislocation Feeding difficulties in infancy Hypsarrhythmia Clinodactyly Tachycardia Abnormality of the dentition Delayed puberty Long nose Prominent occiput Adducted thumb Bilateral single transverse palmar creases Sparse and thin eyebrow Abnormality of the liver Intellectual disability, severe Brachydactyly Prominent nose Cleft lip Muscular hypotonia Abnormality of the foot Epicanthus Episodic fever Wide nasal bridge Polyhydramnios Long philtrum Cataract Short nose Behavioral abnormality Recurrent infections Hypospadias Pierre-Robin sequence Malignant hyperthermia Fatigue Arthritis Hernia Hypoplastic anemia Arteriovenous malformation Absent testis Compensated hypothyroidism Abnormality of the ulna Abnormal eyelid morphology Low-grade fever Almond-shaped palpebral fissure Chromosome breakage External ear malformation Abnormal carotid artery morphology Prolonged G2 phase of cell cycle Irregular hyperpigmentation Anemic pallor Aplasia/Hypoplasia of the radius Combined immunodeficiency Deficient excision of UV-induced pyrimidine dimers in DNA Abnormality of blood and blood-forming tissues B-cell lymphoma Abnormality of the upper limb Aplasia/Hypoplasia of the iris Abnormal localization of kidney Complete duplication of thumb phalanx Meckel diverticulum Duplicated collecting system Primary hypothyroidism Abnormality of nervous system morphology Partial duplication of thumb phalanx Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal renal morphology Aplastic anemia Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Vasculitis Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Abnormal aortic valve morphology Mental deterioration Acute myeloid leukemia Abnormal cardiac septum morphology Pancytopenia Lymphoma Hypopigmentation of the skin Neutropenia Bruising susceptibility Abnormality of skin pigmentation Vertigo Facial asymmetry Toe syndactyly Finger syndactyly Leukemia Lymphadenitis Periorbital edema Abnormality of the eye Hypertrophic cardiomyopathy Carcinoma Weight loss Diabetes mellitus Muscle weakness Headache Congestive heart failure Cardiomyopathy Ventriculomegaly Frontal bossing Hyperreflexia Choanal atresia Aganglionic megacolon Multiple cafe-au-lait spots Reduced bone mineral density Myeloid leukemia Absent thumb Ectopic kidney Squamous cell carcinoma Aplasia/Hypoplasia of the uvula Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of vision Hypopigmented skin patches Recurrent viral infections Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Abnormal vertebral morphology Insulin resistance Cafe-au-lait spot Telangiectasia Neoplasm of head and neck Carious teeth Aplasia/Hypoplasia of fingers Abnormality of the clavicle Breast hypoplasia Gonadotropin deficiency Broad face Wolff-Parkinson-White syndrome Sparse lateral eyebrow Sparse axillary hair Supraventricular tachycardia Ectopic anus Abnormality of the wrist Hypoplastic scapulae Sprengel anomaly Abnormality of the humerus Short clavicles Inverted nipples Shawl scrotum Oligodactyly Hypoplastic nipples Hyperthyroidism Decreased fertility External genital hypoplasia Hypoplastic toenails Bifid scrotum Hand polydactyly Wide nasal base Anterior pituitary hypoplasia Laryngomalacia Absent axillary hair Dysphagia Unilateral oligodactyly Axillary apocrine gland hypoplasia Deformed radius Long uvula Short 5th toe Short 4th toe Imperforate hymen Aplasia of the pectoralis major muscle Laryngeal web Hernia of the abdominal wall Abnormal external genitalia Breast aplasia Body odor Aplasia of the ulna Ectopic posterior pituitary Absent hand Abnormality of the radius Abnormality of temperature regulation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Broad eyebrow Subglottic stenosis Gastroschisis Pyloric stenosis Hypoplasia of the radius Pyridoxine-responsive sideroblastic anemia Scarring Radial deviation of finger Hypohidrosis Generalized-onset seizure Dehydration Cyanosis Edema Limitation of joint mobility Sudden cardiac death Tapered finger Highly arched eyebrow Falls Overlapping toe Visual impairment Everted lower lip vermilion Facial palsy Kyphoscoliosis Inflammatory abnormality of the skin Subcutaneous nodule Hyporeflexia Kyphosis Talipes equinovarus Pain Abnormality of the preputium Keratitis Disproportionate tall stature Abnormality of the fingernails Facial tics Split hand Hypoplasia of penis Postaxial hand polydactyly Convex nasal ridge Growth hormone deficiency Hypodontia Postaxial polydactyly Short distal phalanx of finger Pectus carinatum Camptodactyly of finger Arrhythmia Smooth tongue Opisthotonus Hypernatremic dehydration Bilateral camptodactyly Unexplained fevers Hypopnea Temperature instability Large face Central apnea Trismus Narrow nose Acute kidney injury Limited elbow extension Hepatomegaly Large iliac wings Nystagmus Increased muscle glycogen content Iris coloboma Chronic hepatitis Decreased serum insulin-like growth factor 1 Generalized tonic-clonic seizures Short philtrum Reduced antithrombin III activity Craniosynostosis Increased intramyocellular lipid droplets Telecanthus Exercise-induced muscle fatigue Cerebral venous thrombosis Type I transferrin isoform profile Type II transferrin isoform profile Abnormal protein glycosylation Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Optic atrophy Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Psychotic episodes Recurrent respiratory infections High, narrow palate Broad thumb Paranoia Accommodative esotropia Cerebral atrophy Rhabdomyolysis Downslanted palpebral fissures Hyperinsulinemic hypoglycemia Small face Sensorineural hearing impairment Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Esophoria Amblyopia Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Tetany Sclerocornea Exotropia Giant platelets Proteinuria Alopecia Absent speech Dysdiadochokinesis Thyroid agenesis Neoplasm of the tongue Abnormality of the hand Abnormality of the cheek Holoprosencephaly Cerebellar atrophy Narrow palpebral fissure Multicystic kidney dysplasia Hallucinations Open mouth Thyroid hypoplasia Psychosis Depressivity Peripheral demyelination Dementia Hyperactivity Conductive hearing impairment Vesicoureteral reflux Anxiety Dysmetria Aggressive behavior Pulmonic stenosis Ectopic thyroid Apathy Joint laxity Widely spaced teeth Mood swings Platybasia Joint hyperflexibility Smooth philtrum Thin vermilion border Triangular face Pulmonary artery atresia Abnormality of the endocrine system Echolalia Delusions Scrotal hypoplasia Obsessive-compulsive behavior Atrioventricular canal defect Stenosis of the external auditory canal Axonal loss Abnormality of the antihelix Basal ganglia calcification Abnormality of the ear Myopathic facies Hypoplasia of teeth Hypoplasia of the brainstem Bladder diverticulum Abnormal nasolacrimal system morphology Delayed skeletal maturation Cerebellar hypoplasia Ataxia Arachnoid cyst Agenesis of cerebellar vermis 11 pairs of ribs Abnormal cortical gyration Hypoplastic ilia Short femur Long foot Flat acetabular roof Intellectual disability, mild Delayed epiphyseal ossification Thickened nuchal skin fold Severe intrauterine growth retardation Colpocephaly Epileptic spasms Hip contracture Elevated serum creatine phosphokinase Osteomalacia Broad palm Disproportionate short stature Prolonged neonatal jaundice Partial agenesis of the corpus callosum Cortical gyral simplification Femoral bowing Prominent forehead Profound global developmental delay Thin eyebrow Diabetes insipidus Loss of eyelashes Bifid first metacarpal Cleft vertebral arch Absent knee epiphyses Enlarged metaphyses Bowed humerus Bifid femur Abnormality of the tragus Shoulder flexion contracture Abnormality of the pubic bone Abnormality of the distal phalanx of finger Abnormality of calcium-phosphate metabolism Abnormality of the upper urinary tract Congenital cataract Aplasia/hypoplasia of the femur Small anterior fontanelle Hypoplasia of the frontal lobes Abnormality of the intervertebral disk Abnormally ossified vertebrae Central hypothyroidism Long clavicles Aplastic clavicle Tethered cord Broad distal phalanx of finger Multiple joint contractures Large hands Agenesis of corpus callosum Cardiac arrest Dry skin Micromelia Hypotrichosis Platyspondyly Hepatic steatosis Muscle cramps Chest pain Corneal opacity Sparse hair Hepatitis Muscular hypotonia of the trunk Single transverse palmar crease Abnormality of the nervous system Rigidity Skeletal dysplasia Osteopenia Hypogonadotrophic hypogonadism Exercise intolerance Hyperkeratosis Respiratory failure Glaucoma Abnormality of the coagulation cascade Osteoporosis Thick vermilion border Renal cyst Rickets Bowing of the long bones Elbow dislocation Preaxial polydactyly Hypoglycemia Elevated hepatic transaminase Sacral dimple Lissencephaly Sparse eyelashes Absence seizures Short chin Knee flexion contracture Muscle stiffness Heterotopia Delayed myelination Pachygyria Abnormality of the metaphysis Abnormal form of the vertebral bodies Sparse scalp hair Fine hair Cerebellar vermis hypoplasia Dilated cardiomyopathy Status epilepticus Limb undergrowth Short metacarpal Premature birth Rod-cone dystrophy


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