Fever, and Midface retrusion

Diseases related with Fever and Midface retrusion

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

Top matches:

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

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

High match TMEM165-CDG

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

Other less relevant matches:

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004).See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1 ), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (OMIM ) on chromosome 1p36.

STUVE-WIEDEMANN SYNDROME Is also known as sws|schwartz-jampel syndrome, type 2|stws|stuve-wiedemann/schwartz-jampel type 2 syndrome|schwartz-jampel syndrome, neonatal|sjs2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about STUVE-WIEDEMANN SYNDROME

High match FABRY DISEASE

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

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

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 Midface retrusion

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Global developmental delay Ptosis Hyperhidrosis Abnormal facial shape Seizures Kyphoscoliosis Malar flattening Talipes Hearing impairment Microcephaly Scoliosis Muscle weakness Micrognathia Lymphedema Respiratory distress Osteoporosis Downslanted palpebral fissures Abnormality of the skeletal system Pain Feeding difficulties Recurrent fractures Short neck Motor delay Strabismus Camptodactyly Epicanthus Hyporeflexia Abnormal autonomic nervous system physiology Full cheeks Myotonia Respiratory insufficiency Hypertension Malignant hyperthermia Elbow flexion contracture Myopathy Talipes equinovarus Cognitive impairment Thick eyebrow Dysphagia Long philtrum Pectus carinatum Frontal bossing Muscular hypotonia Recurrent infections Macrocephaly Depressed nasal bridge Hypertelorism Skeletal dysplasia

Rare Symptoms - Less than 30% cases

Myopia Dilatation Renal insufficiency Arrhythmia Cataract Aminoaciduria Rigidity Myalgia Left ventricular hypertrophy Impaired pain sensation Tachycardia Ventricular arrhythmia Prominent supraorbital ridges Muscle cramps Webbed neck Hypotension Decreased fetal movement Lumbar hyperlordosis Bowing of the long bones Inguinal hernia Temperature instability Mitral regurgitation Periorbital fullness Mitral valve prolapse Accelerated skeletal maturation Patent foramen ovale Hypermetropia Aortic root aneurysm Congestive heart failure Ventricular septal defect Wide nasal bridge Heat intolerance Smooth tongue Pursed lips Talipes valgus Flexion contracture of toe Delayed skeletal maturation Metaphyseal widening Anemia Peripheral neuropathy Patent ductus arteriosus Toenail dysplasia Corneal opacity Flat face Hepatic failure Apnea Pes planus Umbilical hernia Osteopenia Proptosis Narrow mouth Unexplained fevers Stroke Abnormal lung morphology Kyphosis Congenital contracture Short palpebral fissure Vomiting Diarrhea Behavioral abnormality Headache Abnormality of the foot Arthrogryposis multiplex congenita Blepharophimosis Proximal muscle weakness Brachycephaly Pectus excavatum Ventriculomegaly Multiple skeletal anomalies Skeletal muscle atrophy Cryptorchidism Cleft palate Thick vermilion border Bulbous nose Anxiety Autistic behavior Hepatosplenomegaly Autism Nausea and vomiting Obesity Immunodeficiency Short nose Myopathic facies Constipation Elevated serum creatine phosphokinase Hoarse voice Posteriorly rotated ears Severe short stature Hypohidrosis Joint laxity Rhizomelia Abnormality of the cerebral white matter Shock Sacral dimple Tubular atrophy Stage 5 chronic kidney disease Renal tubular dysfunction Vertigo Edema of the lower limbs Reduced bone mineral density Peripheral arterial stenosis Tubulointerstitial nephritis Reduced ejection fraction Supraventricular tachycardia Nausea Abnormality of the gastrointestinal tract Large earlobe Spontaneous abortion Oligospermia Elevated serum creatinine Hematuria Nephropathy Tinnitus Clubbing of fingers Paresthesia Abnormal myocardium morphology Malabsorption T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Progressive hearing impairment Corneal dystrophy Ventricular tachycardia Abnormal mitral valve morphology Asymmetric septal hypertrophy Ischemic stroke High-frequency hearing impairment Hyperlipidemia Xerostomia Restrictive cardiomyopathy Purpura Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Exercise intolerance Delayed puberty Angina pectoris Transient ischemic attack Glycosuria Abnormal EKG Loss of consciousness Glomerulosclerosis Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Atrial fibrillation Coronary artery atherosclerosis Impotence Bundle branch block Emphysema Ventricular hypertrophy Anhidrosis Myocardial infarction Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Heart murmur Personality changes Palpitations Thick lower lip vermilion Nephrotic syndrome Abnormality of lipid metabolism Chest pain Wheezing Abdominal distention Renal tubular acidosis Polydipsia Abnormal heart valve morphology Glomerulopathy Telangiectasia of the skin Easy fatigability Atrioventricular block Celiac disease Fasciculations Abnormality of the cardiovascular system Sudden cardiac death Chronic kidney disease Aortic regurgitation Syncope Bradycardia Abnormality of the hand Anorexia Hemiplegia Subcutaneous nodule Urinary incontinence Abnormal intestine morphology Left ventricular septal hypertrophy Miosis High, narrow palate Tall stature Chronic diarrhea Nephrolithiasis Long eyelashes Renal dysplasia Abnormality of the genital system Broad-based gait Hepatitis Dental malocclusion Vesicoureteral reflux Renal cyst Sleep disturbance Unsteady gait Cerebral visual impairment Facial asymmetry Dolichocephaly Protruding ear Abnormality of the pinna Irritability Intellectual disability, moderate Aggressive behavior Hydronephrosis Neonatal hypotonia Deeply set eye EEG abnormality Gastroesophageal reflux Macrotia Dental crowding Pointed chin Agenesis of corpus callosum Abnormality of the periventricular white matter Rod-cone dystrophy Recurrent pyelonephritis Hair-pulling Fulminant hepatic failure Tongue thrusting Hyperorality Cerebellar cortical atrophy Episodic vomiting Delayed CNS myelination Concave nasal ridge Bruxism Arachnoid cyst Palpebral edema Multicystic kidney dysplasia Poor eye contact Weak cry Cellulitis 2-3 toe syndactyly Hypoplastic toenails Large hands Polycystic kidney dysplasia Recurrent upper respiratory tract infections Recurrent skin infections Poor head control Increased intracranial pressure Abnormality of the outer ear Short chin Hyperactivity Clinodactyly of the 5th finger Abnormal renal physiology Vascular skin abnormality Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Decreased female libido Hyposthenuria Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Impaired temperature sensation Shortened QT interval Absent speech Heavy proteinuria Intellectual disability, mild Abnormality of the dentition Atrial septal defect Gait disturbance Delayed speech and language development Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Tenesmus Angiokeratoma corporis diffusum Papule Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Pruritus Pulmonary arterial hypertension Prominent nasal bridge Sinus tachycardia Narrow palpebral fissure Coxa vara Coxa valga Generalized hirsutism EMG abnormality Congenital hip dislocation Joint contracture of the hand Decreased testicular size Microcornea Platyspondyly Mixed respiratory and metabolic acidosis Long upper lip Overfolded helix Congenital ptosis Diaphragmatic eventration Respiratory arrest Severe lactic acidosis Breech presentation Hyperphosphatemia Low hanging columella Thoracic kyphosis Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Sleep apnea Skeletal muscle hypertrophy Hyperkalemia Anterior bowing of long bones Narrow chest Hip dislocation Microtia Abnormal cardiac septum morphology Cerebral cortical atrophy Glaucoma Prominent forehead Abnormal heart morphology Hernia Hydrocephalus Anteverted nares Long eyelashes in irregular rows High pitched voice Abnormality of femoral epiphysis Generalized muscle hypertrophy Shoulder flexion contracture Percussion myotonia Spinal deformities Weak voice Wrist flexion contracture Hypoplasia of the musculature Coronal cleft vertebrae Constrictive median neuropathy Blepharospasm Hip contracture Abnormality of the sternum Abnormality of the coagulation cascade Genu valgum Areflexia Ankle contracture Gowers sign Tented upper lip vermilion Open mouth Narrow forehead Generalized muscle weakness Downturned corners of mouth Long face Facial palsy Telecanthus Conductive hearing impairment Postnatal macrocephaly Failure to thrive Increased head circumference Severe combined immunodeficiency Biparietal narrowing Combined immunodeficiency Lymphopenia Pancytopenia Decreased antibody level in blood Lymphadenopathy Broad forehead Attention deficit hyperactivity disorder Pneumonia Neoplasm Restrictive deficit on pulmonary function testing Hepatomegaly Ventricular fibrillation Diaphyseal dysplasia Deep philtrum Tachypnea Abnormal bleeding Metabolic acidosis Joint hypermobility Lactic acidosis Limb muscle weakness Muscular dystrophy Hyperlordosis Acidosis Pes cavus Hypertonia Anterior pituitary hypoplasia Thrombocytopenia Beaking of vertebral bodies Premature skin wrinkling Broad neck Amelogenesis imperfecta Protruding tongue Metaphyseal dysplasia Epiphyseal dysplasia Postnatal microcephaly Depressed nasal ridge Waddling gait Growth hormone deficiency Elevated hepatic transaminase Pulmonic stenosis Arachnodactyly Cough Short tibia Hypoplastic iliac body Contracture of the proximal interphalangeal joint of the 5th finger Elevated pulmonary artery pressure Mitochondrial respiratory chain defects Square face Thickened cortex of long bones Broad long bones Wide nasal base Ulnar deviation of the hand Enlarged joints Megaloblastic anemia Episodic fever Shivering Ulnar deviation of finger Thin ribs Pathologic fracture Hypokinesia Tibial bowing Femoral bowing Flared metaphysis Mask-like facies Cubitus valgus Nasal speech Adducted thumb Opacification of the corneal stroma Increased upper to lower segment ratio Broad ischia Abnormality of dental enamel Dyspnea Skin rash Developmental regression Abnormality of the kidney Hypertrophic cardiomyopathy Abnormality of the nervous system Proteinuria Arthritis Carcinoma Coarse facial features Arthralgia Mandibular prognathia Hypothyroidism Absent patellar reflexes Hyperkeratosis Abdominal pain Depressivity Edema Cardiomyopathy Fatigue Optic atrophy Sensorineural hearing impairment Metaphyseal rarefaction Pulmonary arterial medial hypertrophy Blotching pigmentation of the skin Abnormal metaphyseal trabeculation Spastic paraparesis Knee flexion contracture Short metacarpal Hyperextensible skin Overlapping fingers Abnormally large globe Upper limb undergrowth Narrow nasal bridge Restrictive ventilatory defect Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Bicuspid aortic valve Generalized osteoporosis Cutis laxa Sandal gap Microretrognathia Joint dislocation Meningitis Amblyopia Blue sclerae Low posterior hairline Cardiomegaly Congenital diaphragmatic hernia Microdontia Esotropia 11 pairs of ribs Small face Paraparesis Metacarpophalangeal joint hyperextensibility Narrow face Sensorimotor neuropathy Short phalanx of finger Thin skin Limb undergrowth Single transverse palmar crease Small hand Pulmonary hypoplasia Respiratory failure Visual loss Clinodactyly Bilateral elbow dislocations Broad distal phalanges of all fingers Deep palmar crease Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Cold-induced sweating


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Macrotia, related diseases and genetic alterations Delayed speech and language development and Stereotypy, related diseases and genetic alterations Edema and Arthrogryposis multiplex congenita, related diseases and genetic alterations Scoliosis and Babinski sign, related diseases and genetic alterations Neoplasm and Heterotopia, related diseases and genetic alterations Abnormal facial shape and Headache, related diseases and genetic alterations