Fever, and Macrotia

Diseases related with Fever and Macrotia

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

Top matches:

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Other less relevant matches:

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Medium match PROTEUS SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

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

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

Top 5 symptoms//phenotypes associated to Fever and Macrotia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Hypertelorism Short stature Recurrent infections Failure to thrive Constipation Abnormal facial shape Ptosis Macrocephaly Diarrhea Frontal bossing Vomiting Hearing impairment Arrhythmia Epicanthus Wide nasal bridge Ventriculomegaly Hypoplasia of the corpus callosum Intellectual disability, severe Hydronephrosis Cerebral cortical atrophy Agenesis of corpus callosum Strabismus Nystagmus Round face Erythema Intellectual disability, mild Hyperhidrosis Clinodactyly of the 5th finger Immunodeficiency Camptodactyly of finger Splenomegaly Lipodystrophy

Rare Symptoms - Less than 30% cases

Atrial septal defect Elevated erythrocyte sedimentation rate Increased antibody level in blood Behavioral abnormality Ventricular septal defect Hyperostosis Clubbing of fingers Syndactyly Motor delay Subcutaneous nodule Microcytic anemia Generalized hypotonia Growth delay Erythema nodosum Flexion contracture Scarring Lymphopenia Conjunctivitis High palate Growth abnormality Cryptorchidism Cleft palate Heat intolerance Episcleritis Dilatation Microphthalmia Tapered finger Abnormality of cardiovascular system morphology Intellectual disability, moderate Scoliosis Neoplasm Cerebellar hypoplasia Obesity Myopia Kyphosis Headache Hyperkeratosis Hip dislocation Feeding difficulties Dolichocephaly Facial asymmetry Renal cyst Epidermal acanthosis Lymphedema Abnormal vertebral morphology Abnormality of the nail Abnormality of dental enamel Abnormality of the pinna Bruxism Absent speech Abdominal distention Patent ductus arteriosus Deeply set eye Anxiety Abnormality of the kidney Finger syndactyly Multicystic kidney dysplasia Hypohidrosis Cardiomegaly Brain atrophy Submucous cleft hard palate Vesicoureteral reflux Renal dysplasia Open mouth Abnormality of the genital system Aganglionic megacolon Pointed chin Bifid scrotum Hallux valgus Umbilical hernia Thick lower lip vermilion Downslanted palpebral fissures Prominent nose Ectopic kidney Fine hair Sparse scalp hair Nail dystrophy Respiratory tract infection Dehydration Prominent forehead Recurrent respiratory infections Respiratory distress Muscle weakness Hepatomegaly Osteopenia Skeletal muscle atrophy Abnormally large globe Skin rash Congestive heart failure Macroglossia Lymphadenopathy Arthralgia Joint stiffness Brachycephaly Narrow forehead Generalized myoclonic seizures Downturned corners of mouth Synophrys Alopecia universalis Thin upper lip vermilion Cheilitis Abnormality of the upper urinary tract Olivopontocerebellar atrophy Corneal scarring Congenital hypothyroidism Abnormal nasolacrimal system morphology Irritability Protruding ear Mandibular hyperostosis Hypertrophy of skin of soles Abnormality of temperature regulation Autistic behavior Depigmentation/hyperpigmentation of skin Hyperconvex fingernails Subcortical cerebral atrophy Malignant hyperthermia Underdeveloped supraorbital ridges Abnormality of the dentition EEG abnormality Gastroesophageal reflux Autism Hyperactivity Hyporeflexia Midface retrusion Malar flattening Neonatal hypotonia Recurrent corneal erosions Long philtrum Gait disturbance Alopecia totalis Thin eyebrow Delayed speech and language development Oxycephaly Paronychia Multifocal cerebral white matter abnormalities Large fleshy ears Horizontal eyebrow Abnormality of brain morphology Aggressive behavior Congenital stationary night blindness Cognitive impairment Hypoplasia of the bladder Connective tissue nevi Myofibrillar myopathy Neoplasm of the central nervous system Generalized hyperkeratosis Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Asymmetric growth Enlarged polycystic ovaries Thick nasal alae Visceral angiomatosis Long penis Thin bony cortex Buphthalmos Epibulbar dermoid Arterial thrombosis Anisocytosis Hemihypertrophy Abnormality of the neck Lower limb asymmetry Arteriovenous malformation Varicose veins Deep venous thrombosis Meningioma Macroorchidism Abnormality of the wrist Venous malformation Ichthyosis follicularis Cerebral cortical hemiatrophy Narrow internal auditory canal Central heterochromia Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Retinal nonattachment Nausea and vomiting Bronchogenic cyst Retinal hamartoma Scleritis Thymus hyperplasia Nevus sebaceous Facial hyperostosis Thin fingernail Abnormal pelvis bone morphology Sirenomelia Macrodactyly Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Epidermal nevus Lymphangioma Testicular neoplasm Upper limb asymmetry Keloids Nephrogenic diabetes insipidus Hypermetropia Follicular hyperkeratosis Unsteady gait Poor eye contact Toenail dysplasia Episodic vomiting Periorbital fullness Delayed CNS myelination Concave nasal ridge Ectodermal dysplasia Arachnoid cyst Abnormality of the periventricular white matter Nail dysplasia Palpebral edema Impaired pain sensation Specific learning disability Hyperorality Postaxial hand polydactyly Eczema Oligohydramnios Abnormality of the ribs Choanal atresia Omphalocele Hypoplasia of dental enamel Abnormality of the hair Hemivertebrae Recurrent bacterial infections Opacification of the corneal stroma Cerebellar cortical atrophy Tongue thrusting Spinal cord compression Photophobia Hypotrichosis Talipes Astigmatism Platyspondyly Dry skin Papule Corneal opacity Developmental regression Camptodactyly Mental deterioration Ichthyosis Polydactyly Palmoplantar keratoderma Dementia Severe short stature Alopecia Delayed skeletal maturation Inguinal hernia Hernia Intrauterine growth retardation Recurrent pyelonephritis Hair-pulling Pulmonary hypoplasia Fulminant hepatic failure Postaxial polydactyly Plagiocephaly Abnormality of the hand Hepatic failure Long eyelashes Short chin Uveitis Cerebral visual impairment Parakeratosis Dental crowding Tall stature Chronic diarrhea Alopecia of scalp Nephrolithiasis Blepharitis Abnormal eyelash morphology Absent eyelashes Accelerated skeletal maturation Broad-based gait Hepatitis Dental malocclusion Full cheeks Sleep disturbance Abnormal eyelid morphology High, narrow palate Corneal erosion Thick vermilion border Hypoplastic fingernail Thick eyebrow Bulbous nose Oligodactyly Sacral dimple Urticaria Hypoplastic toenails Scaling skin Psoriasiform dermatitis Erythroderma Weak cry Unilateral renal agenesis Intestinal obstruction Keratitis Absent eyebrow Hydroureter Cellulitis 2-3 toe syndactyly Mixed hearing impairment Abnormality of the outer ear Large hands Absent septum pellucidum Polycystic kidney dysplasia Abnormality of the vertebral column Prominent supraorbital ridges Recurrent upper respiratory tract infections Congenital ichthyosiform erythroderma Atonic seizures Recurrent skin infections Ectrodactyly Poor head control Increased intracranial pressure Abnormality of finger Abdominal pain Capillary hemangioma Right bundle branch block Arthritis Elevated hepatic transaminase Hepatosplenomegaly Babinski sign Thrombocytopenia Edema Anemia Abnormality of the Leydig cells Clubbing of toes Episodic fever Lipoatrophy Abnormality of the face Inability to walk Arachnodactyly Arthrogryposis multiplex congenita Abnormal pyramidal sign Respiratory insufficiency Low-to-normal blood pressure Renal juxtaglomerular cell hypertrophy/hyperplasia Increased serum prostaglandin E2 Hyperprostaglandinuria Hyperchloriduria Hyperactive renin-angiotensin system Fetal polyuria Abnormality of the liver Hypertriglyceridemia Renal potassium wasting Stiff skin Telecanthus High forehead Mandibular prognathia Posteriorly rotated ears Abnormal heart morphology Pectus excavatum Depressivity Hypospadias Short nose Adipose tissue loss Finger swelling Panniculitis Hyperpigmentation of the skin Hypochromic anemia Flexion contracture of toe Generalized lipodystrophy Immune dysregulation Myositis Rimmed vacuoles Basal ganglia calcification Hypermelanotic macule Long fingers Glucose intolerance Elbow flexion contracture Bone pain Increased urinary potassium Hypochloremia Coloboma Hypoalbuminemia Junctional split Respiratory acidosis Crossed fused renal ectopia Decreased glomerular filtration rate Onycholysis Tubular atrophy Fragile skin Interstitial pulmonary abnormality Focal segmental glomerulosclerosis Neonatal respiratory distress Glomerulosclerosis Sparse eyelashes Polyhydramnios Recurrent pneumonia Gynecomastia Sparse and thin eyebrow Abnormal lung morphology Nephrotic syndrome Cyanosis Abnormal blistering of the skin Narrow chest Proteinuria Narrow mouth Pneumonia Renal insufficiency Acidosis Small for gestational age Hyposthenuria Hypomagnesemia Hypokalemic alkalosis Hypokalemic metabolic alkalosis Pseudohypoaldosteronism Hypocalciuria Increased circulating renin level Impaired platelet aggregation Metabolic alkalosis Tetany Chondrocalcinosis Alkalosis Renal salt wasting Hyperaldosteronism Paresthesia Hyperthyroidism Hyperkalemia Polyuria Polydipsia Hypercalciuria Hypokalemia Ventricular arrhythmia Nephrocalcinosis Premature birth Triangular face Generalized muscle weakness Muscle cramps Postnatal growth retardation Abnormal cardiac septum morphology Papilledema Abnormality of skin pigmentation Thickened skin Heterotopia Abnormal form of the vertebral bodies High myopia Overgrowth Decreased antibody level in blood Nevus Gliosis Sudden cardiac death Polymicrogyria Long face Confusion Sinusitis Carious teeth Craniosynostosis Carcinoma Skeletal dysplasia Kyphoscoliosis Proptosis Glaucoma Visual loss Anteverted nares Optic atrophy Depressed nasal bridge Low-set ears Abnormality of retinal pigmentation Generalized hirsutism Aplasia/Hypoplasia of the cerebral white matter Multiple lipomas Exostoses Lipoma Neoplasm of the lung Abnormal lung lobation Irregular hyperpigmentation Spinal canal stenosis Pulmonary embolism Generalized hyperpigmentation Ovarian neoplasm Hamartoma Multiple cafe-au-lait spots Neurofibromas Venous thrombosis Pericardial effusion Disproportionate tall stature Decreased muscle mass Diabetes insipidus Melanocytic nevus Chorioretinal coloboma Cachexia Reduced number of teeth Palmoplantar hyperkeratosis Goiter Abnormality of the metacarpal bones Hemangioma Cataract Pulmonary artery sling Pectus carinatum Tetralogy of Fallot Poor suck Abnormality of the genitourinary system Drooling Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Cutaneous syndactyly Absence seizures Postnatal microcephaly Recurrent otitis media Coarctation of aorta Sloping forehead Febrile seizures Sparse eyebrow Focal-onset seizure Otitis media Esotropia Delayed eruption of teeth Everted lower lip vermilion Iris coloboma Falls Cleft upper lip Pulmonic stenosis Abnormality of the cerebral white matter Neurological speech impairment Short philtrum Pyloric stenosis Aplasia/Hypoplasia of the cerebellum Large basal ganglia Broad columella Abnormal morphology of the hippocampus Abnormal eye morphology Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Happy demeanor Deep plantar creases Subglottic stenosis Broad eyebrow Prominent nasal tip Esodeviation Broad hallux phalanx Cupped ear Large earlobe Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Chronic constipation Low hanging columella Abnormal eyebrow morphology Pulmonary artery stenosis External ear malformation Drowsiness Supernumerary nipple Rocker bottom foot Unilateral chest hypoplasia


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