Fever, and Frontal bossing

Diseases related with Fever and Frontal bossing

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


Top matches:

High match MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME


A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

High match BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2


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

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Other less relevant matches:

High match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

High match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

High match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A


Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

High match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

High match CYSTINOSIS, NEPHROPATHIC; CTNS


Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

High match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

High match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Top 5 symptoms//phenotypes associated to Fever and Frontal bossing

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Short stature Vomiting Short nose Constipation Prominent forehead Failure to thrive Muscular hypotonia Generalized muscle weakness Dehydration Micrognathia Hepatosplenomegaly Visual impairment Hepatomegaly Blindness Splenomegaly Lymphadenopathy Intellectual disability, severe Macrocephaly Hypertelorism Hyperhidrosis Arthritis

Rare Symptoms - Less than 30% cases


Autism Strabismus Renal insufficiency Feeding difficulties Flexion contracture Dry skin Encephalopathy Nystagmus Hypodontia Ectodermal dysplasia Vasculitis Microcephaly Cryptorchidism Cerebral atrophy Progressive neurologic deterioration Polydipsia Urticaria Migraine Papule Skin rash Myalgia EEG abnormality Arthralgia Leukocytosis Hearing impairment Elevated erythrocyte sedimentation rate Hypothyroidism Fatigue Brachydactyly Amyloidosis Uveitis Abnormal facial shape Polyuria Everted lower lip vermilion Low-set ears Depressed nasal bridge Autistic behavior Broad forehead Highly arched eyebrow Heat intolerance Biparietal narrowing Postnatal growth retardation Feeding difficulties in infancy Esotropia Immunodeficiency Pain Short chin Diarrhea High palate Purpura Eczema Clinodactyly Neoplasm Premature birth Pneumonia Hypohidrosis Finger clinodactyly Hyponatremia Hypophosphatemic rickets Primary hypothyroidism Epicanthus Decreased plasma carnitine Tremor Gait disturbance Syndactyly Rickets Generalized aminoaciduria Metaphyseal widening Recurrent corneal erosions Cleft palate Oral-pharyngeal dysphagia Rachitic rosary Elevated intracellular cystine Glycosuria Male infertility Renal Fanconi syndrome Corneal crystals Retinal pigment epithelial mottling Oral motor hypotonia Exocrine pancreatic insufficiency Microscopic hematuria Flushing Preeclampsia Episodic metabolic acidosis Male hypogonadism Hypopigmentation of hair Genu valgum Failure to thrive in infancy Stereotypy Self-injurious behavior Language impairment Focal impaired awareness seizure Tented upper lip vermilion Infantile muscular hypotonia Widely spaced teeth Sandal gap Absence seizures Generalized hirsutism Low anterior hairline Dental crowding Polyphagia Open mouth Hypoplasia of penis Epileptic encephalopathy Hip dysplasia Febrile seizures Focal-onset seizure Prominent nose Sleep disturbance Short foot Small hand Downturned corners of mouth Cupped ear Short attention span Chronic kidney disease Proteinuria Nephrolithiasis Pigmentary retinopathy Cerebral calcification Memory impairment Hypopigmentation of the skin Abnormality of skin pigmentation Stage 5 chronic kidney disease Confusion Absent speech Delayed puberty Retinopathy Photophobia Macrodontia Diabetes mellitus Hypogonadism Delayed skeletal maturation Myopathy Dysphagia Skeletal muscle atrophy Cognitive impairment Muscle weakness Abnormality of lower lip Paroxysmal bursts of laughter Hemifacial hypoplasia Dilatation Cleft upper lip Hernia Headache Nausea Vertigo Infertility Cough Nyctalopia Erythema Pallor Abdominal pain Rod-cone dystrophy Depressivity Cataract Abdominal distention Scoliosis Central Y-shaped metacarpal Midline notch of upper alveolar ridge Y-shaped metacarpals Occipital meningocele Mesoaxial hand polydactyly Hypoplasia of olfactory tract Bulimia Hypothalamic hamartoma Episodic tachypnea Mesoaxial polydactyly Retinal dystrophy Sepsis Erysipelas Porokeratosis Recurrent aphthous stomatitis Chills Peritonitis Large forehead Acrocyanosis Posterior subcapsular cataract Poor coordination Peripheral visual field loss Episodic fever Increased IgA level Neuritis Subcapsular cataract Limitation of joint mobility Colitis Hypermelanotic macule Intestinal obstruction Apathy Conjunctivitis Recurrent pneumonia Long eyelashes Nephrotic syndrome Optic disc pallor Aciduria Gastrointestinal hemorrhage Tongue nodules Hamartoma of tongue Abnormal heart morphology Toe syndactyly Renal dysplasia Cerebellar vermis hypoplasia Apraxia Dandy-Walker malformation Renal agenesis Broad nasal tip Abnormal cerebellum morphology Postaxial polydactyly Long face Oral cleft Prominent nasal bridge Oculomotor apraxia Abnormality of the kidney Apnea Low-set, posteriorly rotated ears Cleft lip Abnormality of the nervous system Conductive hearing impairment Micropenis Polydactyly Posteriorly rotated ears Agenesis of corpus callosum Inguinal hernia Thick eyebrow Aplasia/Hypoplasia of the corpus callosum Lobulated tongue Partial agenesis of the corpus callosum Neutrophilia Optic neuritis Abnormal oral frenulum morphology Cervical lymphadenopathy Serositis Accessory oral frenulum Preaxial foot polydactyly Short femur Meningocele Foot polydactyly Hamartoma Tibial bowing Tachypnea Abnormal retinal morphology Molar tooth sign on MRI Abnormality of neuronal migration Preaxial hand polydactyly Bilateral cryptorchidism Radial deviation of finger Trigonocephaly Hand polydactyly Preaxial polydactyly Polycystic kidney dysplasia Renal hypoplasia/aplasia Short palm Corpus callosum atrophy Bulbous nose Skeletal dysplasia Arthropathy Abnormal joint morphology Progressive sensorineural hearing impairment Reduced bone mineral density Increased intracranial pressure Joint dislocation Meningitis Overgrowth Nausea and vomiting Proptosis Abnormal thrombocyte morphology Edema Anemia Sensorineural hearing impairment Low-to-normal blood pressure Renal juxtaglomerular cell hypertrophy/hyperplasia Increased serum prostaglandin E2 Hyperprostaglandinuria Hyperchloriduria Hyperactive renin-angiotensin system Fetal polyuria Juvenile rheumatoid arthritis Delayed closure of the anterior fontanelle Renal potassium wasting Hypotrichosis Thin skin Depressed nasal ridge Sparse scalp hair Microdontia Underdeveloped nasal alae Hypoplasia of the maxilla Delayed eruption of teeth Thick vermilion border Short distal phalanx of finger Sparse hair Elevated C-reactive protein level Respiratory tract infection Recurrent respiratory infections Abnormality of the dentition Respiratory distress Hypertension Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Increased urinary potassium Hypochloremia Hoarse voice Pancytopenia Macrotia Polyhydramnios Acidosis Arrhythmia Postnatal macrocephaly Increased head circumference Severe combined immunodeficiency Combined immunodeficiency Lymphopenia Decreased antibody level in blood Small for gestational age Attention deficit hyperactivity disorder Obesity Midface retrusion Recurrent infections Long philtrum Recurrent streptococcus pneumoniae infections Conical incisor Periorbital edema Cellulitis Osteomyelitis Osteopenia Paresthesia Hyposthenuria Alkalosis Hypokalemic alkalosis Hypokalemic metabolic alkalosis Pseudohypoaldosteronism Hypocalciuria Increased circulating renin level Impaired platelet aggregation Metabolic alkalosis Tetany Chondrocalcinosis Abnormally large globe Muscle cramps Renal salt wasting Hypomagnesemia Hyperaldosteronism Hyperthyroidism Hyperkalemia Hypercalciuria Hypokalemia Ventricular arrhythmia Nephrocalcinosis Triangular face Sparse and thin eyebrow Type I diabetes mellitus Astigmatism Keratoconjunctivitis sicca Cerebellar cortical atrophy Spinal deformities EMG: chronic denervation signs Degeneration of the lateral corticospinal tracts Urinary retention Morphological abnormality of the pyramidal tract Lewy bodies Gangrene Abnormality of visual evoked potentials Diabetes insipidus Autoamputation of digits Epiphora Keratitis Poor suck Decreased nerve conduction velocity Severe muscular hypotonia Sensorimotor neuropathy Choreoathetosis Tetraparesis Spastic tetraplegia Abnormality of extrapyramidal motor function Autoamputation Hypothalamic hypothyroidism Gliosis Retrognathia Facial asymmetry Synophrys Hypermetropia Microtia Wide mouth Protruding ear Aggressive behavior Thin upper lip vermilion Coarse facial features Gastroesophageal reflux Cerebellar gliosis Gait ataxia Hyperactivity Brachycephaly Clinodactyly of the 5th finger Malar flattening Behavioral abnormality Myopia Motor delay Delayed speech and language development Ptosis Neuronal loss in central nervous system Generalized myoclonic seizures Sparse eyelashes Soft skin Abnormal oral mucosa morphology Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Absent nipple Concave nail Anterior hypopituitarism Conical tooth Anodontia Taurodontia Absent eyelashes Periorbital wrinkles Rhinitis Hypoplastic nipples Sparse body hair Agenesis of permanent teeth Aplasia/Hypoplasia of the eyebrow Anhidrosis Absent eyebrow Brittle hair Prominent supraorbital ridges Dysphonia Everted upper lip vermilion Periorbital hyperpigmentation Parkinsonism Cerebral cortical atrophy Tetraplegia Neurodegeneration Unsteady gait Abnormality of the cerebral white matter Abnormal pyramidal sign Paralysis Developmental regression Mental deterioration Muscular hypotonia of the trunk Dementia Aplasia/Hypoplastia of the eccrine sweat glands Areflexia Visual loss Abnormality of metabolism/homeostasis Dystonia Cerebellar atrophy Optic atrophy Hyperreflexia Peripheral neuropathy Spasticity Hypoplastic-absent sebaceous glands Pharyngitis



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