Fever, and Upslanted palpebral fissure

Diseases related with Fever and Upslanted palpebral fissure

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

Top matches:

Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

High 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

Other less relevant matches:

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Medium match ONDINE SYNDROME

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

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

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

Medium 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

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

Top 5 symptoms//phenotypes associated to Fever and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Upslanted palpebral fissure. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Global developmental delay Scoliosis Epicanthus Downslanted palpebral fissures Abnormal facial shape Feeding difficulties Microcephaly Low-set ears Micrognathia Failure to thrive Ventriculomegaly Kyphosis Hypertelorism Muscle weakness Hearing impairment Delayed puberty Depressed nasal bridge Osteoporosis Arrhythmia Muscular hypotonia Abnormality of the dentition Cognitive impairment Midface retrusion Intrauterine growth retardation Hepatomegaly Kyphoscoliosis Myopathy Aganglionic megacolon Posteriorly rotated ears Nystagmus Abnormality of the genital system Obesity Micropenis Severe short stature Abnormality of the skeletal system Cleft palate Cataract Hypopigmentation of the skin Growth hormone deficiency Narrow forehead Oligohydramnios Decreased fetal movement Diabetes mellitus Short nose Adrenal insufficiency Skeletal dysplasia Hyperhidrosis Hypertonia Flexion contracture

Rare Symptoms - Less than 30% cases

Split hand Hydrocephalus Ataxia Abnormality of the metacarpal bones Polydactyly Bifid scrotum Microphthalmia Atrial septal defect Renal insufficiency Almond-shaped palpebral fissure Abnormality of cardiovascular system morphology Thrombocytopenia Hypospadias Patent ductus arteriosus Abnormal heart morphology Ventricular septal defect Hypothermia Triangular mouth Glucose intolerance Sleep apnea Constipation Long philtrum Scrotal hypoplasia Poor suck Precocious puberty Hyperinsulinemia Diarrhea Tachycardia External genital hypoplasia Polyphagia Myeloid leukemia Anterior pituitary hypoplasia Gastroschisis Hypopigmentation of hair Hypoventilation Chromosome breakage Proptosis Pectus carinatum Abnormality of the kidney Hypodontia Bicornuate uterus Pectus excavatum Abnormality of temperature regulation Abnormality of the uterus Insulin resistance Abnormality of the urinary system Hypoplasia of the ulna Rhizomelia Abnormal renal morphology Postaxial polydactyly Webbed neck Absent radius Postaxial hand polydactyly Hyperkalemia Hypoplasia of penis Renal hypoplasia Renal hypoplasia/aplasia Abnormal localization of kidney Aplasia/Hypoplasia of the radius Myopathic facies Finger syndactyly Hip dislocation Breech presentation Toe syndactyly Abnormality of the foot Anal atresia Malignant hyperthermia Renal agenesis Proximal muscle weakness Short palpebral fissure Spasticity Choanal atresia Low-set, posteriorly rotated ears Respiratory insufficiency Cyanosis Short thumb Arthrogryposis multiplex congenita Increased body weight Pyloric stenosis Neoplasm Hypogonadism Sleep disturbance Shock Behavioral abnormality Abnormality of the hypothalamus-pituitary axis Elevated hepatic transaminase Dilatation Anxiety Hyporeflexia Cardiorespiratory arrest Downturned corners of mouth Hyperactivity Vomiting Genu valgum Weight loss Autism Neutropenia Pain Dolichocephaly Leukemia Stroke Attention deficit hyperactivity disorder Respiratory tract infection Apnea Congestive heart failure Syndactyly Hypoglycemia Talipes equinovarus Abnormality of the cardiovascular system Motor delay Intellectual disability, severe Malar flattening Hypertension Visual impairment Depressivity Hypothyroidism Edema Cutaneous photosensitivity Anemia Elevated serum creatine phosphokinase Hypoplasia of the frontal lobes Hypercapnia Absent speech Talipes calcaneovalgus Muscular hypotonia of the trunk Periventricular gray matter heterotopia Abnormality of limbs Facial capillary hemangioma Opsoclonus Abnormality of the gallbladder Severe photosensitivity Alveolar ridge overgrowth Dystonia Myotonia Septate vagina Encephalopathy Abnormality of the autonomic nervous system Sleep-wake cycle disturbance Lymphedema Elevated 7-dehydrocholesterol Chronic constipation Central hypoventilation Abnormal pupil morphology Hypoxemia Neoplasm of the central nervous system Tachypnea Lumbar hyperlordosis Chronic lung disease Hypotension Abnormality of the endocrine system Increased serum testosterone level Deep philtrum Obstructive sleep apnea Abnormality of the mouth Polycythemia Neuroblastoma Snoring Abnormal autonomic nervous system physiology Abnormal lung morphology Ventricular arrhythmia Postural instability Ganglioneuroma Ganglioneuroblastoma Unilateral oligodactyly Hip subluxation Long upper lip Postaxial foot polydactyly Self-mutilation Upper limb undergrowth Abnormal eyelash morphology Diaphragmatic eventration Severe intrauterine growth retardation Abnormal lung lobation Congenital ptosis Epiphyseal stippling Ulnar deviation of finger Increased number of teeth Biparietal narrowing Abnormality of digit Microglossia Atrioventricular canal defect Mesomelia Sinus tachycardia 2-3 toe syndactyly Overlapping toe Metatarsus adductus Cutis marmorata Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Unilateral renal agenesis Hammertoe Clitoral hypertrophy Proximal placement of thumb Male pseudohermaphroditism Severe failure to thrive Ventricular fibrillation Advanced eruption of teeth Abnormality of the coagulation cascade Abnormality of the sternum Median cleft palate Broad alveolar ridges Rhabdomyolysis Acute kidney injury Scaphocephaly Increased nuchal translucency Ectopic calcification Myoglobinuria Thoracic kyphosis Ureteropelvic junction obstruction Low hanging columella Hyperphosphatemia Sclerocornea Decreased circulating aldosterone level Hypocholesterolemia Aplasia/Hypoplasia affecting the eye Gastrointestinal dysmotility Abnormality of the larynx Cholestatic liver disease Severe lactic acidosis Respiratory arrest Bifid tongue Overlapping fingers Sex reversal Excessive daytime somnolence Tracheal stenosis Mesomelic short stature Areflexia Generalized tonic-clonic seizures Abnormality of the wrist Breast hypoplasia Perimembranous ventricular septal defect Gonadotropin deficiency Broad face Wolff-Parkinson-White syndrome Sacral dimple Sparse lateral eyebrow Epiphyseal dysplasia Sparse axillary hair Supraventricular tachycardia Ectopic anus Hypoplastic scapulae Abnormality of the humerus Abnormality of finger Abnormality of the clavicle Sprengel anomaly Short clavicles Inverted nipples Shawl scrotum Anal stenosis Oligodactyly Hypoplastic nipples Short humerus Metaphyseal dysplasia Self-injurious behavior Wide nasal base Hoarse voice Protruding tongue Abnormal external genitalia Deformed radius Long uvula Macrocephaly Short 5th toe Short 4th toe Imperforate hymen Aplasia of the pectoralis major muscle Laryngeal web Hernia of the abdominal wall Absent axillary hair Hepatosplenomegaly Joint laxity Body odor Breast aplasia Aplasia of the ulna Ectopic posterior pituitary Abnormality of the cerebral white matter Absent hand Abnormality of the radius Laryngeal stenosis Aplasia/Hypoplasia of the ulna Waddling gait Depressed nasal ridge Broad eyebrow Postnatal microcephaly Subglottic stenosis Decreased fertility Amelogenesis imperfecta Abnormality of eye movement Facial palsy Lactic acidosis Gowers sign Congenital contracture Tented upper lip vermilion Joint hypermobility Metabolic acidosis Open mouth Generalized muscle weakness Long face Talipes Blepharophimosis Telecanthus Limb muscle weakness Conductive hearing impairment Brachycephaly Axillary apocrine gland hypoplasia Muscle cramps Skeletal muscle atrophy Focal clonic seizures Multifocal seizures Involuntary movements Choreoathetosis Status epilepticus Epileptic encephalopathy Abnormal bleeding Ankle contracture Restrictive deficit on pulmonary function testing Broad neck Acidosis Premature skin wrinkling Beaking of vertebral bodies Hypoplastic toenails Hand polydactyly Laryngomalacia Toenail dysplasia Hypoplasia of the radius Abnormality of the fingernails Diaphyseal dysplasia Unexplained fevers Pes cavus Interphalangeal joint contracture of finger Convex nasal ridge Multiple skeletal anomalies Round face Wide nose Short distal phalanx of finger Rigidity Myalgia Hyperlordosis Camptodactyly of finger Camptodactyly Mandibular prognathia Inguinal hernia Muscular dystrophy Hernia Hyperthyroidism Anemic pallor Hyponatremia Narrow nasal bridge Generalized hypopigmentation Ocular albinism Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Pulmonary embolism Striae distensae Impaired pain sensation Truncal obesity Abdominal obesity Decreased muscle mass Skeletal muscle hypertrophy Albinism Inflammation of the large intestine Large hands Emotional lability Radial deviation of finger Failure to thrive in infancy Nasal speech Infantile muscular hypotonia Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Cor pulmonale Poor fine motor coordination Aortic valve stenosis Frontal bossing Abnormal cardiac septum morphology Abnormality of the liver Postnatal growth retardation Irritability Abnormality of the eye Hypertrophic cardiomyopathy Carcinoma Pes planus Umbilical hernia Clinodactyly of the 5th finger Headache Respiratory distress Fatigue Anteverted ears Hyperreflexia Acromicria Poor gross motor coordination Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Clitoral hypoplasia Hypogonadotrophic hypogonadism Bradycardia Facial asymmetry Microcytic anemia Clinodactyly Intellectual disability, mild Myopia Delayed speech and language development Malar prominence Monochromacy Hypersplenism Abnormal hemoglobin Neoplasm of the liver Abnormality of the skull Increased serum ferritin Hypoparathyroidism Abnormality of the thorax Prominent forehead Cholelithiasis Venous thrombosis Skin ulcer Pulmonary arterial hypertension Cirrhosis Paresthesia Malabsorption Nyctalopia Pallor Jaundice Arthralgia Dyspnea Cardiomyopathy Recurrent respiratory infections Respiratory failure Clumsiness Short foot Primary amenorrhea Psychosis Type II diabetes mellitus Amenorrhea Specific learning disability Hip dysplasia Febrile seizures Esotropia Gastrointestinal hemorrhage Full cheeks Sepsis Tapered finger Small hand Narrow mouth Short palm Polymicrogyria Arachnodactyly Infertility Carious teeth Hypermetropia Pruritus Abnormality of the pinna Abnormality of the nervous system Neonatal hypotonia Photophobia Thin upper lip vermilion Osteopenia Small for gestational age Astigmatism Reduced number of teeth Short neck Autistic behavior Feeding difficulties in infancy Intellectual disability, moderate Aggressive behavior Hydronephrosis Retrognathia Gastroesophageal reflux Polyhydramnios Glaucoma Cerebellar hypoplasia Recurrent infections Hypoplasia of the corpus callosum Anteverted nares Micromelia Optic atrophy Wide nasal bridge Brachydactyly Sensorineural hearing impairment Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Compensated hypothyroidism Wide mouth Pulmonary hypoplasia Hypoplastic anemia Abnormal form of the vertebral bodies Optic nerve hypoplasia Aplasia/Hypoplasia of the corpus callosum Abnormal dermatoglyphics Hypercholesterolemia Holoprosencephaly Abnormality of dental enamel Hyperbilirubinemia Multicystic kidney dysplasia Short toe Gingival overgrowth Amblyopia Dental crowding Recurrent otitis media Iris coloboma Intellectual disability, profound Abnormality of the ribs Coarctation of aorta Congenital diaphragmatic hernia Ambiguous genitalia Eczema Limb undergrowth Peripheral demyelination Dandy-Walker malformation Wide intermamillary distance Intestinal malrotation Premature birth Renal cyst Absent testis Chromosomal breakage induced by crosslinking agents Vertigo Type I diabetes mellitus Hydroureter Ectopic kidney Squamous cell carcinoma Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Cranial nerve paralysis Azoospermia Leukopenia Horseshoe kidney Multiple cafe-au-lait spots Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Pancytopenia Sloping forehead Tetralogy of Fallot Lymphoma Bruising susceptibility Abnormality of skin pigmentation Absent thumb Acute myeloid leukemia Decreased fertility in males Abnormality of chromosome stability Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormal aortic valve morphology Abnormality of blood and blood-forming tissues Acute monocytic leukemia Abnormality of femur morphology Abnormality of the thumb Abnormality of the testis Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Hearing abnormality External ear malformation Irregular hyperpigmentation Mixed respiratory and metabolic acidosis


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