Fever, and Kyphoscoliosis

Diseases related with Fever and Kyphoscoliosis

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

Top matches:

EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Medium match CAFFEY DISEASE

Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.

CAFFEY DISEASE Is also known as infantile cortical hyperostosis

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Fever
  • Abnormality of the skeletal system


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAFFEY DISEASE

Other less relevant matches:

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

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

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

Medium match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

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 Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Kyphoscoliosis

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Strabismus Intellectual disability High palate Malignant hyperthermia Generalized hypotonia Myopathy Proximal muscle weakness Global developmental delay Microcephaly Abnormality of the skeletal system Low-set ears Micrognathia Arthrogryposis multiplex congenita Long philtrum Hearing impairment Talipes Myopathic facies Cryptorchidism Facial palsy Epicanthus Motor delay Skeletal muscle atrophy Failure to thrive Abnormal facial shape Malar flattening Cognitive impairment Downslanted palpebral fissures Feeding difficulties Midface retrusion Talipes equinovarus Kyphosis Respiratory insufficiency

Rare Symptoms - Less than 30% cases

Pectus excavatum Rhabdomyolysis Abnormality of the dentition Ventriculomegaly Cataract Growth delay Hyperostosis Blepharophimosis Peripheral neuropathy Telecanthus Camptodactyly Hyperhidrosis Elevated serum creatine phosphokinase Hyperlordosis Myoglobinuria Abnormality of the foot Shock Lumbar hyperlordosis Breech presentation Osteoporosis Trismus Unexplained fevers Microphthalmia Congenital contracture Pes cavus Generalized muscle weakness Hip dislocation Polyhydramnios Areflexia Muscular dystrophy Muscle cramps Severe short stature Hypertonia Intrauterine growth retardation Hypertelorism Cleft palate Decreased fetal movement Lymphedema Feeding difficulties in infancy Myalgia Carious teeth Pectus carinatum Pain Short neck Scarring alopecia of scalp Hypohidrotic ectodermal dysplasia Wide nasal bridge Mixed respiratory and metabolic acidosis Sinus tachycardia Limb muscle weakness Supernumerary ribs Breast aplasia Congenital ptosis Breast hypoplasia Generalized osteosclerosis Cerebellar atrophy Short nose Thick nail Ridged nail Inguinal hernia Conical tooth Anodontia Prominent forehead Glaucoma Long upper lip Hyperphosphatemia Diaphragmatic eventration Abnormality of the coagulation cascade Tachycardia Stroke Joint hypermobility Metabolic acidosis Narrow mouth Webbed neck Hypotension Tachypnea Rigidity Ventricular arrhythmia Deep philtrum Myotonia Ventricular fibrillation Acidosis Arrhythmia Respiratory arrest Thoracic kyphosis Severe lactic acidosis Retinal hemorrhage Lactic acidosis Low hanging columella Nail pits Hyperpigmented streaks Retinal vascular proliferation Hyperkalemia Atrophic, patchy alopecia Scaphocephaly Acute kidney injury Renal insufficiency Dilatation Abnormality of the sternum Abnormal bleeding Pterygium Mandibular prognathia Chorea Primary amenorrhea Intention tremor Interphalangeal joint contracture of finger Amenorrhea Peripheral demyelination Decreased testicular size Microcornea Long eyelashes Polyneuropathy Sensory neuropathy Small hand Paresthesia Dysmetria Congenital cataract Abnormal pyramidal sign Split hand Hypergonadotropic hypogonadism Hypoglycemia Decreased serum estradiol Acute rhabdomyolysis Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Abnormality of peripheral nerve conduction Motor axonal neuropathy Hypogonadotrophic hypogonadism Genu recurvatum Axonal loss Secondary amenorrhea Axonal degeneration Decreased motor nerve conduction velocity Postural tremor CNS hypomyelination Camptodactyly of finger Cerebral cortical atrophy Deeply set eye Joint contracture of the hand Rheumatoid arthritis Abnormality of the vasculature Nasal speech Adducted thumb Spina bifida occulta Knee flexion contracture Intellectual disability, profound Rocker bottom foot Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Flat face Small for gestational age Postnatal growth retardation Arthritis Hypoplasia of the brainstem Mask-like facies Hypogonadism Whistling appearance Babinski sign Cerebral atrophy Intellectual disability, mild Tremor Nystagmus Ataxia Chin with H-shaped crease Shoulder flexion contracture Hip contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Flexion contracture of toe Overbite Dimple chin Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hypoplasia of the fovea Optic atrophy Pustule Depressed nasal bridge Protruding ear Apnea Carcinoma Clinodactyly Syndactyly Anteverted nares Cortical irregularity Round face Periosteal thickening of long tubular bones Hyperesthesia Cortical thickening of long bone diaphyses Anasarca Calvarial hyperostosis Thoracic dysplasia Full cheeks Sensorimotor neuropathy Restlessness Limited elbow extension Brachycephaly Hyporeflexia Cold-induced sweating Excessive salivation Thoracolumbar scoliosis Renal cell carcinoma Opisthotonus Elbow flexion contracture 2-3 toe syndactyly Radial deviation of finger Cubitus valgus Scaling skin Poor suck Abnormal autonomic nervous system physiology Thrombocytosis Cellulitis Long face Neonatal hypotonia Centrally nucleated skeletal muscle fibers Spinal rigidity Ophthalmoparesis Limb-girdle muscular dystrophy Congenital hip dislocation Hypertrophic cardiomyopathy Pes planus Type 1 muscle fiber predominance Cardiomyopathy Fatigue Halitosis Muscle fibrillation Bilateral ptosis Pneumonia Nemaline bodies Skeletal myopathy Tibial bowing Facial asymmetry Increased antibody level in blood Leukocytosis Bowing of the legs Disproportionate short-limb short stature Hydrops fetalis Short palm Irritability Generalized limb muscle atrophy Proptosis Hernia Behavioral abnormality Edema Minicore myopathy Stooped posture Conductive hearing impairment Downturned corners of mouth Uveitis Sparse hair Abnormality of skin pigmentation Malabsorption Nail dystrophy Papule Skin rash Scarring Erythema Delayed eruption of teeth Pallor Hyperkeratosis Alopecia Visual loss Recurrent infections Immunodeficiency Retinal detachment Hypopigmentation of the skin Spasticity Increased bone mineral density Hypoplastic nipples Supernumerary nipple Keratitis Coarse hair Eosinophilia Hemivertebrae Hyperpigmentation of the skin Hypodontia Fine hair Abnormal blistering of the skin Nail dysplasia Ectodermal dysplasia Nevus Tetraplegia Visual impairment Neoplasm Narrow forehead Hepatomegaly Elevated hepatic transaminase Hepatosplenomegaly Skeletal dysplasia Posteriorly rotated ears Thrombocytopenia Macrocephaly Multiple skeletal anomalies Abnormality of the cerebral white matter Restrictive deficit on pulmonary function testing Ankle contracture Gowers sign Tented upper lip vermilion Open mouth Short palpebral fissure Joint laxity Growth hormone deficiency Diaphyseal dysplasia Protruding tongue Anterior pituitary hypoplasia Toenail dysplasia Beaking of vertebral bodies Premature skin wrinkling Broad neck Amelogenesis imperfecta Metaphyseal dysplasia Waddling gait Epiphyseal dysplasia Sacral dimple Hoarse voice Rhizomelia Postnatal microcephaly Depressed nasal ridge Peripheral hypomyelination


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