Hypertelorism, and Fever

Diseases related with Hypertelorism and Fever

In the following list you will find some of the most common rare diseases related to Hypertelorism and Fever 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

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

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

Other less relevant matches:

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

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

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

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

Top 5 symptoms//phenotypes associated to Hypertelorism and Fever

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Abnormal facial shape Generalized hypotonia Flexion contracture Strabismus Long philtrum Malignant hyperthermia Short nose Micrognathia Skin rash Short stature Hypertonia Scoliosis Renal insufficiency Failure to thrive Low-set ears Intellectual disability, profound Growth delay Pneumonia

Rare Symptoms - Less than 30% cases

Constipation Gliosis Vomiting Dehydration Fatigue Kyphoscoliosis Arthrogryposis multiplex congenita Malar flattening Recurrent pneumonia Breech presentation Narrow mouth Arthritis Hypotension Ptosis Lymphedema Cerebral cortical atrophy Muscle weakness Postnatal microcephaly Status epilepticus Abnormality of movement Deeply set eye Mandibular prognathia Inguinal hernia Pterygium Myopathy Cerebellar atrophy Intellectual disability, severe Hyperreflexia Nystagmus Hearing impairment Cryptorchidism Prominent forehead Kyphosis Recurrent respiratory infections Overweight Neoplasm Macrocephaly Immunodeficiency Recurrent infections Midface retrusion Obesity Autism Hepatosplenomegaly Decreased antibody level in blood Sensorineural hearing impairment Visual impairment Myopia Behavioral abnormality Adducted thumb Autistic behavior Muscular hypotonia Limb muscle weakness Abnormal bleeding Muscle cramps Metabolic acidosis Joint hypermobility Tachycardia Lactic acidosis Depressed nasal bridge Decreased fetal movement Muscular dystrophy Pectus carinatum Stroke Hyperlordosis Myalgia Proximal muscle weakness Rigidity Webbed neck Lumbar hyperlordosis Acidosis Abnormality of the sternum Hyperphosphatemia Low hanging columella Thoracic kyphosis Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Hyperkalemia Shock Myopathic facies Abnormality of the coagulation cascade Ventricular fibrillation Myotonia Deep philtrum Ventricular arrhythmia Tachypnea Macrotia Gynecomastia Severe lactic acidosis Protruding tongue Profound global developmental delay Short attention span Fair hair Blue irides Progressive gait ataxia Epileptic spasms Drowsiness Atonic seizures Happy demeanor Keratoconus Polyphagia Albinism Flat occiput Self-injurious behavior Incoordination Hyperkinesis Moderate global developmental delay Limb tremor Pes cavus Downslanted palpebral fissures Elevated serum creatine phosphokinase Arrhythmia Pectus excavatum Dilatation Frontal bossing Proteinuria Respiratory tract infection Erythema Inappropriate laughter Nail dystrophy Narrow chest Anisometropia Paroxysmal bursts of laughter Tongue thrusting Large foramen magnum Sleep-wake cycle disturbance Hyperhidrosis Respiratory arrest Cerebral palsy Microphthalmia Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Elevated hepatic transaminase Jaundice Micropenis Cerebellar hypoplasia Thrombocytopenia Splenomegaly Corneal opacity Cardiomyopathy Anteverted nares Ventriculomegaly Hepatomegaly Anemia Spasticity Cataract Abnormality of the liver Generalized tonic-clonic seizures Whistling appearance Cerebral visual impairment Increased CSF protein Petechiae Lissencephaly Spastic tetraparesis Purpura Microretrognathia Opacification of the corneal stroma Decreased liver function Congenital cataract Pachygyria Tetraparesis Sloping forehead Cerebral calcification Neuronal loss in central nervous system Tetraplegia Polymicrogyria Chin with H-shaped crease Shoulder flexion contracture Diaphragmatic eventration Telecanthus Flat face Talipes Hip dislocation Small for gestational age Blepharophimosis Postnatal growth retardation Camptodactyly Glaucoma Underdeveloped nasal alae Short neck Talipes equinovarus Wide nasal bridge Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Dental malocclusion Abnormality of the skin Ulnar deviation of the hand or of fingers of the hand Hip contracture Abnormal auditory evoked potentials Flexion contracture of toe Overbite Dimple chin Trismus Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Mask-like facies Joint contracture of the hand Rocker bottom foot Hypoplasia of the brainstem Congenital contracture Rheumatoid arthritis Nasal speech Spina bifida occulta Knee flexion contracture Drooling Widely spaced teeth Head-banging Germinoma Cough Camptodactyly of finger Diarrhea High myopia Interphalangeal joint contracture of finger Abnormal lung morphology Abnormality of the anterior pituitary Neutropenia Hypertonic dehydration Nocturia Pollakisuria Central diabetes insipidus Histiocytosis Enuresis Orthostatic hypotension Malabsorption Sepsis Polyuria Encephalitis Agammaglobulinemia External ear malformation Recurrent sinusitis Bronchitis Cellulitis Osteomyelitis Chronic otitis media Recurrent skin infections Hepatitis Conjunctivitis Recurrent bacterial infections Meningitis Sinusitis Bronchiectasis Chronic diarrhea Recurrent otitis media Diabetes insipidus Polydipsia B lymphocytopenia Tubular atrophy Hypersexuality Tryptophanuria Junctional split Respiratory acidosis Crossed fused renal ectopia Decreased glomerular filtration rate Onycholysis Fragile skin Mood swings Interstitial pulmonary abnormality Ectopic kidney Focal segmental glomerulosclerosis Neonatal respiratory distress Glomerulosclerosis Hypoalbuminemia Sparse eyelashes Stuttering Abnormality of metabolism/homeostasis Emotional lability Confusion Limited elbow extension Growth hormone deficiency Syncope Sparse and thin eyebrow Coma Wide nose Vertigo Dry skin Generalized joint laxity Lethargy Autoimmunity Irritability Osteopenia Weight loss Diabetes mellitus Osteoporosis Verrucae Crohn's disease Intellectual disability, progressive Gastroesophageal reflux Hypermetropia Neurological speech impairment Wide mouth Feeding difficulties in infancy Anxiety Lymphadenopathy EEG abnormality Abnormal blistering of the skin Infertility Gait ataxia Pancytopenia Hyperactivity Brachycephaly Lymphopenia Encephalopathy Absent speech Broad forehead Astigmatism Biparietal narrowing Attention deficit hyperactivity disorder Aspiration Exotropia Round face Abnormality of the face Clumsiness Broad-based gait Respiratory distress Generalized-onset seizure Falls Overgrowth Focal-onset seizure Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Hypopigmentation of the skin Sleep disturbance Combined immunodeficiency Severe combined immunodeficiency Recurrent enteroviral infections Pulmonary hypoplasia Akinesia Arthralgia Increased susceptibility to fractures Joint dislocation Pes planus Depressed nasal ridge Congenital diaphragmatic hernia Polyhydramnios Vertebral fusion Hernia Edema Intrauterine growth retardation Aggressive behavior Cleft palate Joint laxity Intellectual disability, moderate Short finger Cystic hygroma Optic atrophy Fine hair Increased head circumference Motor delay Feeding difficulties Postnatal macrocephaly Ataxia Cyanosis Nephrotic syndrome Sparse scalp hair Thin ribs Abnormal cervical curvature Amyoplasia Hypoplastic heart Multiple pterygia Fetal akinesia sequence Meningocele Depressivity Congenital microcephaly


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