Fever, and Sloping forehead

Diseases related with Fever and Sloping forehead

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

Top matches:

High match COG4-CDG

COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Other less relevant matches:

High match OHDO SYNDROME

OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OHDO SYNDROME

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

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

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

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Top 5 symptoms//phenotypes associated to Fever and Sloping forehead

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Failure to thrive Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Hearing impairment Ventriculomegaly Hepatomegaly Growth delay Abnormal facial shape Feeding difficulties Cleft palate High palate Low-set ears Short stature Atrial septal defect Posteriorly rotated ears Nystagmus Ptosis Hyperreflexia Cryptorchidism Muscular hypotonia Muscular hypotonia of the trunk Hypertonia Agenesis of corpus callosum Frontal bossing Severe short stature Aganglionic megacolon Cataract Submucous cleft hard palate Tetralogy of Fallot Bulbous nose Abnormality of the foot Hydronephrosis Hypothyroidism Abnormality of the kidney Spasticity Postnatal growth retardation Hypogonadism Hypertelorism Abnormality of cardiovascular system morphology Flexion contracture Lissencephaly Thrombocytopenia Elevated hepatic transaminase Diarrhea Clinodactyly of the 5th finger Irritability Oligohydramnios Hypoplasia of the corpus callosum Epicanthus Ventricular septal defect Cerebellar hypoplasia Microphthalmia Renal insufficiency Ataxia Long nose Patent ductus arteriosus Anteverted nares Polymicrogyria

Rare Symptoms - Less than 30% cases

Hypsarrhythmia Specific learning disability Prominent nose Bifid uvula Aciduria Retrognathia Metabolic acidosis Congenital microcephaly Microtia Feeding difficulties in infancy Depressed nasal bridge Acidosis Wide nasal bridge Optic atrophy Short nose Short palpebral fissure Tapered finger Sparse and thin eyebrow Dolichocephaly Proptosis Osteopenia Congestive heart failure Respiratory distress Apnea Fatigue Small for gestational age Hip dislocation Dry skin Osteoporosis Cerebellar vermis hypoplasia Small anterior fontanelle Short thumb Elbow flexion contracture Knee flexion contracture Abnormality of the urinary system Hydroureter Partial agenesis of the corpus callosum Respiratory failure Respiratory insufficiency Bilateral single transverse palmar creases Finger syndactyly Prominent occiput Strabismus Downslanted palpebral fissures Hypospadias Abnormal heart morphology Abnormality of nervous system morphology High forehead Abnormal cardiac septum morphology Pachygyria Abnormality of the skeletal system Coarctation of aorta Fine hair Sparse scalp hair Abnormality of the genital system Absence seizures Ectopic kidney External ear malformation Spina bifida Intrauterine growth retardation Postnatal microcephaly Widely spaced teeth Status epilepticus Vomiting Long philtrum Intellectual disability, severe Cardiomyopathy Visual impairment Anemia Absent speech Hepatosplenomegaly Hepatic failure Micropenis Constipation Sepsis Weight loss Adducted thumb Lethargy Failure to thrive in infancy Limb hypertonia Abdominal distention Cerebral cortical atrophy Recurrent respiratory infections Pain Neoplasm Hypertrophic cardiomyopathy Scoliosis Cerebral atrophy Splenomegaly Generalized tonic-clonic seizures Corneal opacity Abnormality of the liver Sensorineural hearing impairment Astigmatism Carcinoma Anal atresia Increased muscle lipid content Renal hypoplasia/aplasia Basal ganglia cysts Facial asymmetry Hypopigmented skin patches Hepatic calcification Toe syndactyly Decreased plasma free carnitine Vertigo Tapered toe Leukemia Reduced bone mineral density Abnormality of vision Intracerebral periventricular calcifications Abnormality of the eye Nonketotic hypoglycemia Hypopigmentation of the skin Abnormality of skin pigmentation Antenatal intracerebral hemorrhage Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Elevated long chain fatty acids Abnormal vertebral morphology Leukopenia Insulin resistance Azoospermia Bruising susceptibility Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Choanal atresia Pancytopenia Renal agenesis Lymphoma Neutropenia Cranial nerve paralysis Pes planus Hyperhidrosis Umbilical hernia Thin eyebrow Hypoplasia of the frontal lobes Abnormality of the intervertebral disk Abnormally ossified vertebrae Central hypothyroidism Long clavicles Aplastic clavicle Tethered cord Conical incisor Broad distal phalanx of finger Abnormality of the upper urinary tract Colpocephaly Aplasia/hypoplasia of the femur Profound global developmental delay Agenesis of cerebellar vermis 11 pairs of ribs Abnormal cortical gyration Hypoplastic ilia Short femur Long foot Flat acetabular roof Abnormality of finger Delayed epiphyseal ossification Periorbital edema Cellulitis Diabetes mellitus Ectodermal dysplasia Decreased plasma total carnitine Upslanted palpebral fissure Elevated serum long-chain fatty acids Headache Long-chain dicarboxylic aciduria Hydrocephalus Myelodysplasia Arthritis Bifid first metacarpal Hypodontia Osteomyelitis Large iliac wings Cleft vertebral arch Absent knee epiphyses Enlarged metaphyses Bowed humerus Bifid femur Abnormality of the tragus Shoulder flexion contracture Abnormality of the pubic bone Abnormality of the distal phalanx of finger Loss of eyelashes Abnormality of calcium-phosphate metabolism Hyperinsulinemia Abnormality of blood and blood-forming tissues Triphalangeal thumb Overfolded helix Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Multicystic kidney dysplasia Neoplasm of head and neck Narrow palate Hyperammonemia Ventricular arrhythmia Polycystic kidney dysplasia Deficient excision of UV-induced pyrimidine dimers in DNA Hypoplastic toenails Cardiomegaly Cerebral hemorrhage Arachnoid cyst Anemic pallor Hyperkalemia Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Renal dysplasia Abnormality of the preputium Decreased fertility in males Temperature instability Cleft soft palate Organic aciduria Decreased skull ossification Enlarged cisterna magna Hypoplasia of the fovea Progressive microcephaly Decreased fetal movement Severe lactic acidosis Spinal dysraphism Limitation of joint mobility Arrhythmia Wide intermamillary distance Elevated serum creatine phosphokinase Prominent forehead Hypoglycemia Lactic acidosis Neonatal hypotonia Severe global developmental delay Dilated cardiomyopathy Hepatic steatosis Coma Myoclonus Encephalopathy Chromosomal breakage induced by crosslinking agents Clubbing of toes Tracheoesophageal fistula Irregular hyperpigmentation Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality Increased total bilirubin Bicornuate uterus Aplasia/Hypoplasia of the radius Absent radius Dilation of lateral ventricles Acute myeloid leukemia Macrovesicular hepatic steatosis Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Abnormality of the thumb Abnormality of femur morphology Partial duplication of thumb phalanx Primary hypothyroidism Complete duplication of thumb phalanx Enlarged kidney Aplasia/Hypoplasia of the iris Heart block Hypothermia Low-grade fever Meckel diverticulum Duplicated collecting system Hypoketotic hypoglycemia Duodenal stenosis Cystic renal dysplasia Acute monocytic leukemia Ureteral duplication Long toe Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Biventricular hypertrophy Abnormal renal morphology Dicarboxylic aciduria Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Thickened nuchal skin fold Aplasia/Hypoplasia of the cerebral white matter Severe intrauterine growth retardation Increased CSF protein Triangular face Thin vermilion border Smooth philtrum Joint hyperflexibility Blepharophimosis Joint laxity Proteinuria Polyhydramnios Narrow mouth Abnormality of the dentition Petechiae Scrotal hypoplasia Spastic tetraparesis Purpura Microretrognathia Opacification of the corneal stroma Cerebral visual impairment Decreased liver function Tetraparesis Intellectual disability, profound Cerebral calcification Neuronal loss in central nervous system Interphalangeal joint contracture of finger Atrioventricular canal defect Tetraplegia Dilatation Pectus carinatum Camptodactyly of finger Coloboma Telecanthus Anxiety Deeply set eye Macrotia Mandibular prognathia Pectus excavatum Depressivity Syndactyly Stenosis of the external auditory canal Behavioral abnormality Motor delay Abnormality of the cheek Neoplasm of the tongue Thyroid agenesis Ectopic thyroid Thyroid hypoplasia Abnormal nasolacrimal system morphology Bladder diverticulum Hypoplasia of teeth Abnormality of the antihelix Gliosis Abnormality of movement Neurological speech impairment Intermittent diarrhea Myopathy Abnormal protein N-linked glycosylation Fatal liver failure in infancy Abnormal protein O-linked glycosylation Type II transferrin isoform profile Complex febrile seizures Neonatal sepsis Frontotemporal cerebral atrophy Recurrent infection of the gastrointestinal tract Generalized neonatal hypotonia Thick hair Prominent nasal bridge Diffuse cerebral atrophy Abnormality of the coagulation cascade Elevated alkaline phosphatase Recurrent upper respiratory tract infections Shock Hypercholesterolemia Chronic diarrhea Cirrhosis Respiratory tract infection Recurrent infections Abdominal pain Nausea and vomiting Congenital cataract Enterocolitis Skin rash Jaundice Abnormality of enteric ganglion morphology Total intestinal aganglionosis Intestinal perforation Functional abnormality of the gastrointestinal tract Neoplasm of the thyroid gland Total colonic aganglionosis Anteverted ears Central hypoventilation Intestinal polyposis Thick eyebrow Neoplasm of the endocrine system Heterochromia iridis Hypoventilation Malnutrition Flat occiput Intestinal obstruction Abnormal autonomic nervous system physiology Increased body weight Low anterior hairline Long eyelashes Dental malocclusion Short philtrum Abnormality of the cerebral white matter Epileptic spasms Abnormality of the nervous system Delayed myelination Renal cyst Single transverse palmar crease Thick vermilion border Short palm Micromelia Hypotrichosis Platyspondyly Sparse hair Abnormality of the pinna Rigidity Short metacarpal Skeletal dysplasia Dyspnea Hyperkeratosis Glaucoma Polydactyly Alopecia Delayed skeletal maturation Malar flattening Short neck Brachydactyly Premature birth Limb undergrowth Pulmonary artery sling Large hands Hip contracture Short humerus Osteomalacia Broad palm Disproportionate short stature Prolonged neonatal jaundice Cortical gyral simplification Femoral bowing Multiple joint contractures Diabetes insipidus Rickets Renal hypoplasia Elbow dislocation Preaxial polydactyly Abnormality of the metacarpal bones Sacral dimple Sparse eyelashes Short chin Muscle stiffness Bowing of the long bones Heterotopia Abnormality of the metaphysis Abnormal form of the vertebral bodies Cognitive impairment Large basal ganglia Pulmonic stenosis Open mouth Aplasia/Hypoplasia of the cerebellum Sparse eyebrow Pyloric stenosis Poor suck Abnormality of the genitourinary system Drooling Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Pointed chin Recurrent otitis media Dehydration Cupped ear Febrile seizures Focal-onset seizure Otitis media Esotropia Vesicoureteral reflux Brain atrophy Delayed eruption of teeth Everted lower lip vermilion Iris coloboma Falls Cleft upper lip Bifid scrotum Rocker bottom foot Abnormal morphology of the hippocampus Broad columella 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 Hallux valgus Large earlobe Bruxism Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Chronic constipation Low hanging columella Abnormal eyebrow morphology Pulmonary artery stenosis Drowsiness Supernumerary nipple Recurrent streptococcus pneumoniae infections


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Long face, related diseases and genetic alterations Edema and Recurrent respiratory infections, related diseases and genetic alterations Cardiomyopathy and Systemic lupus erythematosus, related diseases and genetic alterations Spasticity and Lactic acidosis, related diseases and genetic alterations Microcephaly and Abnormal cardiac septum morphology, related diseases and genetic alterations Cataract and Hypospadias, related diseases and genetic alterations