Fever, and Omphalocele

Diseases related with Fever and Omphalocele

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

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Other less relevant matches:

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).

TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME Is also known as tnf receptor 1-associated periodic syndrome|fpf|traps syndrome|hibernian fever, familial|familial hibernian fever|fhf|tnf receptor-associated periodic syndrome|tumor necrosis factor receptor-associated periodic syndrome|traps

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Edema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Top 5 symptoms//phenotypes associated to Fever and Omphalocele

Symptoms // Phenotype % cases
Inguinal hernia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Conjunctivitis Failure to thrive Vomiting Scoliosis Cryptorchidism Hearing impairment Hernia Anemia Diarrhea Splenomegaly Generalized hypotonia Hydroureter Constipation Hip dislocation Hydronephrosis Arthralgia Hypertelorism Cleft palate Arthritis Abdominal pain Uveitis Intestinal obstruction Atonic seizures

Rare Symptoms - Less than 30% cases

Ichthyosis Myopathy Micrognathia Astigmatism Talipes Peritonitis Urticaria Aganglionic megacolon Developmental regression Papule Camptodactyly of finger Scarring Erythema Camptodactyly Cerebral cortical atrophy Dilatation Kyphosis Intellectual disability, severe Myopia Feeding difficulties Flexion contracture Muscular hypotonia Nystagmus Pain Anxiety Episcleritis Strabismus Hepatic failure Abdominal distention Behavioral abnormality Cerebellar atrophy Portal hypertension Malnutrition Elevated erythrocyte sedimentation rate Deeply set eye Optic atrophy Macrocephaly Cranial nerve paralysis Vasculitis Glaucoma Myalgia Mandibular prognathia Weight loss Neoplasm Joint stiffness Bruising susceptibility Ataxia Hyperreflexia Hypertonia Encephalopathy Gastroesophageal reflux Abnormality of movement Hepatomegaly Falls Sleep disturbance Intellectual disability, profound Aspiration Overgrowth Muscle stiffness Hypertension Global developmental delay Skin rash Ectodermal dysplasia Telecanthus Vesicoureteral reflux Renal dysplasia Abnormality of the genital system Small for gestational age Fair hair Blue irides Blepharitis Photophobia Choanal atresia Pulmonary hypoplasia Ectrodactyly Hypoplasia of the maxilla Keratitis Oligohydramnios Nail dysplasia Absent septum pellucidum Heat intolerance Blepharophimosis Recurrent infections Recurrent respiratory infections Hypohidrosis Malar flattening Hyperkeratosis Polydactyly Immunodeficiency Recurrent corneal erosions Alopecia Progressive gait ataxia Broad-based gait Status epilepticus Short attention span Polyphagia Clumsiness Disproportionate tall stature Hyperparathyroidism Episodic abdominal pain Profound global developmental delay Generalized-onset seizure Chronic constipation Anonychia Overweight Hypoalbuminemia Cerebral palsy Flat occiput Self-injurious behavior Incoordination Keratoconus Protruding tongue Hyperkinesis Drooling External ophthalmoplegia Epileptic spasms Widely spaced teeth Intellectual disability, progressive Exotropia Pancreatitis Postnatal microcephaly Drowsiness Abnormality of the face Albinism Trismus Autistic behavior Focal-onset seizure Renal amyloidosis Obesity Absent speech Urethral obstruction Motor delay Abnormal facial shape Barrett esophagus Sensorineural hearing impairment Neuroma Hernia of the abdominal wall Hyperactivity Recurrent aphthous stomatitis Abnormality of the nose Broad foot Progressive sensorineural hearing impairment Restrictive ventilatory defect Abnormality of the voice Abnormal palate morphology Gastrointestinal obstruction Hypoperistalsis Brachycephaly Megacystis Macroglossia Volvulus Abnormal cerebellum morphology Hypopigmentation of the skin Infertility Hypermetropia Achalasia Neurological speech impairment Wide mouth Happy demeanor Aplasia/Hypoplasia of the abdominal wall musculature Gait ataxia Abdominal situs inversus Intestinal pseudo-obstruction Urinary retention Pollakisuria Feeding difficulties in infancy Microcolon EEG abnormality Prune belly Autism Moderate global developmental delay Large foramen magnum Horseshoe kidney Pneumonia Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Flat face Anteverted nares Arthrogryposis multiplex congenita Abnormality of cardiovascular system morphology Postnatal growth retardation Kyphoscoliosis Narrow mouth Knee flexion contracture Polyhydramnios Low-set, posteriorly rotated ears Prominent forehead Abnormality of the liver Long philtrum Short nose Prominent nasal bridge Broad forehead Short neck Ophthalmoplegia Joint contracture of the hand Dysphagia Wide nasal bridge Abnormal auditory evoked potentials Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rocker bottom foot Breech presentation Dimple chin Overbite Flexion contracture of toe Hypoplasia of the brainstem Ulnar deviation of the hand or of fingers of the hand Spina bifida occulta Shoulder flexion contracture Whistling appearance Chin with H-shaped crease Congenital contracture Rheumatoid arthritis Pterygium Nasal speech Adducted thumb Peripheral neuropathy Skeletal muscle atrophy Talipes equinovarus Epicanthus Limb tremor Vertigo Cellulitis Macule Interphalangeal joint contracture of finger Hypermelanotic macule Leukocytosis Meningitis Peripheral demyelination Migraine Chest pain Nausea Lymphadenopathy Amyloidosis Paresthesia Headache Edema Recurrent urinary tract infections Anisometropia Paroxysmal bursts of laughter Tongue thrusting Malignant hyperthermia Sleep-wake cycle disturbance Inappropriate laughter Intestinal malrotation Pericarditis High palate Neuritis Ptosis Nephrotic syndrome Fasciitis Narrow chest Hepatic amyloidosis Orchitis Abnormality of the sacroiliac joint Conjunctival hyperemia Optic neuritis Erysipelas Pleuritis Episodic fever Chills Lymphocytosis Periorbital edema Elevated C-reactive protein level Recurrent pharyngitis Arachnodactyly Abnormal myocardium morphology Myositis Round face Reticulocytosis Muscle weakness Esophagitis Nephropathy Ventriculomegaly Hyperhidrosis Dementia Severe short stature Agenesis of corpus callosum Cerebellar hypoplasia Delayed skeletal maturation Microphthalmia Hypoplasia of the corpus callosum Respiratory distress Frontal bossing Mental deterioration Intrauterine growth retardation Growth delay Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Dacryocystitis Semilobar holoprosencephaly Ureterocele Macrotia Abnormality of the kidney Abnormality of the nasopharynx Abnormality of the ribs Abnormality of dental enamel Recurrent bacterial infections Hemivertebrae Multicystic kidney dysplasia Abnormality of the nail Abnormality of the hair Abnormal vertebral morphology Hypoplasia of dental enamel Epidermal acanthosis Eczema Respiratory tract infection Postaxial hand polydactyly Specific learning disability Brain atrophy Palmoplantar keratoderma Postaxial polydactyly Dry skin Hypotrichosis Platyspondyly Nail dystrophy Corneal opacity Nail pits Duplicated collecting system Plagiocephaly Cleft upper lip Thin skin Split hand Sparse scalp hair Microdontia Renal agenesis Growth hormone deficiency Broad nasal tip Hypodontia Oral cleft Anal atresia Hypogonadotrophic hypogonadism Abnormality of the foot Toe syndactyly Carious teeth Short philtrum Microtia Cleft lip Conductive hearing impairment Micropenis Posteriorly rotated ears Syndactyly Sparse and thin eyebrow Sparse eyelashes Nasolacrimal duct obstruction Anodontia Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Hypoplasia of the thymus Sparse pubic hair Rectovaginal fistula Dysuria Sparse axillary hair Generalized hypopigmentation Depressed nasal tip Oligodontia Bilateral cleft lip Split foot Xerostomia Hypoplastic nipples Hypopituitarism Epiphora Hand polydactyly Preaxial polydactyly Abnormality of the urinary system Abnormality of the genitourinary system Opacification of the corneal stroma Abnormality of the hand Delayed puberty Loss of consciousness Cirrhosis Malabsorption Hepatosplenomegaly Jaundice Nocturnal seizures Exaggerated startle response Myokymia Hiatus hernia Hypokinesia Myotonia Ascites Joint dislocation Congenital hip dislocation Fasciculations Frequent falls Epileptic encephalopathy Apnea Rigidity Myoclonus Fatigue Gait disturbance Hepatic steatosis Pulmonary arterial hypertension Gingival recession Esophageal varix Pes cavus Abnormality of metabolism/homeostasis Adrenal calcification Bone-marrow foam cells Periportal fibrosis Low-grade fever Vacuolated lymphocytes Hyperlipoproteinemia Foam cells Acute hepatic failure Hypertriglyceridemia Abnormality of lipid metabolism Protuberant abdomen Steatorrhea Cachexia Hypercholesterolemia Hyperlipidemia Atherosclerosis Increased body weight Leukodystrophy Hepatic fibrosis Spasticity Periodontitis Scaling skin Alopecia of scalp Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Hypoplastic fingernail Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Absent eyelashes Abnormal eyelash morphology Parakeratosis Alopecia universalis Submucous cleft hard palate Oligodactyly Congenital ichthyosiform erythroderma Abnormality of the vertebral column Mixed hearing impairment Absent eyebrow Bifid scrotum Unilateral renal agenesis Erythroderma Psoriasiform dermatitis Oxycephaly Cheilitis Premature loss of teeth Ichthyosis follicularis Gingival bleeding Fragile skin Atrophic scars Nephroblastoma Hyperextensible skin Osteoarthritis Lymphoma Joint hypermobility Irritability Unilateral chest hypoplasia Abnormal pelvis bone morphology Abnormality of the upper urinary tract Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Megaduodenum


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Dandy-Walker malformation, related diseases and genetic alterations Optic atrophy and Infertility, related diseases and genetic alterations