Fever, and Kyphosis

Diseases related with Fever and Kyphosis

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

X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1 Is also known as cmt2, formerly|cmt1x|charcot-marie-tooth peroneal muscular atrophy, x-linked|cmtx1|cmtx|charcot-marie-tooth neuropathy, x-linked, 1|hereditary motor and sensory neuropathy, x-linked|hmsn, x-linked

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

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

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

Top 5 symptoms//phenotypes associated to Fever and Kyphosis

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Kyphoscoliosis Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Feeding difficulties Seizures Flexion contracture Skeletal muscle atrophy Generalized hypotonia Microcephaly High palate Pain Feeding difficulties in infancy Abnormality of the skeletal system Ataxia Hearing impairment Abnormality of the foot Generalized muscle weakness Abnormal facial shape Facial palsy Optic atrophy Low-set ears Respiratory insufficiency Intellectual disability Strabismus Areflexia Ptosis

Rare Symptoms - Less than 30% cases

Anteverted nares Brachycephaly Long philtrum Failure to thrive Sensorimotor neuropathy Cerebellar atrophy Peripheral neuropathy Downslanted palpebral fissures Depressed nasal bridge Growth delay Nystagmus Sensorineural hearing impairment Hyperreflexia Gait disturbance Midface retrusion Tetraplegia Macrocephaly Epicanthus Clumsiness Protruding tongue Hepatosplenomegaly Posteriorly rotated ears Abnormality of the face Ventriculomegaly Micrognathia Spasticity Babinski sign Postnatal microcephaly Hypopigmentation of the skin Incoordination Paraparesis Abnormal cerebellum morphology Falls Abnormality of the cerebral white matter Hyporeflexia Unexplained fevers Hyperostosis Talipes Carious teeth Severe short stature Myopathy Cognitive impairment Malignant hyperthermia Myopathic facies Cleft palate Polyhydramnios Arthrogryposis multiplex congenita Behavioral abnormality Proximal muscle weakness Anterior pituitary hypoplasia Overweight Epileptic spasms Diaphyseal dysplasia Neoplasm Progressive gait ataxia Cataract Visual impairment Abnormality of the dentition Immunodeficiency Microphthalmia Visual loss Recurrent infections Nail dystrophy Nevus Hypodontia Drowsiness Delayed eruption of teeth Retinal detachment Abnormality of skin pigmentation Malabsorption Papule Beaking of vertebral bodies Skin rash Scarring Sparse hair Erythema Pallor Hyperkeratosis Alopecia Toenail dysplasia Amelogenesis imperfecta Premature skin wrinkling Sleep-wake cycle disturbance Thrombocytopenia Malar flattening Happy demeanor Hepatomegaly Limb tremor Inappropriate laughter Large foramen magnum Osteoporosis Tongue thrusting Paroxysmal bursts of laughter Multiple skeletal anomalies Restrictive deficit on pulmonary function testing Ankle contracture Gowers sign Congenital contracture Elevated serum creatine phosphokinase Skeletal dysplasia Blue irides Shock Broad neck Atonic seizures Fair hair Metaphyseal dysplasia Short attention span Epiphyseal dysplasia Sacral dimple Profound global developmental delay Elevated hepatic transaminase Hoarse voice Rhizomelia Moderate global developmental delay Depressed nasal ridge Waddling gait Growth hormone deficiency Joint laxity Ectodermal dysplasia Fine hair Nail dysplasia Obesity Autism Gait ataxia Cerebral cortical atrophy Hyperactivity Constipation Inguinal hernia Encephalopathy Absent speech Broad-based gait Vomiting Exotropia Intellectual disability, severe Myopia Muscular hypotonia Hypertelorism Atrophic, patchy alopecia Mandibular prognathia Status epilepticus Hyperpigmented streaks Wide mouth Hypoplasia of the maxilla Sleep disturbance Astigmatism Infertility Abnormality of movement Hypermetropia Neurological speech impairment Autistic behavior Intellectual disability, profound Anxiety Deeply set eye EEG abnormality Gastroesophageal reflux Focal-onset seizure Overgrowth Generalized-onset seizure Retinal vascular proliferation Nail pits Keratoconus Coarse hair Abnormality of the vasculature Pustule Albinism Uveitis Hypoplastic nipples Supernumerary nipple Keratitis Eosinophilia Anodontia Hemivertebrae Polyphagia Increased bone mineral density Hyperpigmentation of the skin Lymphedema Macroglossia Abnormal blistering of the skin Hypoplasia of the fovea Flat occiput Retinal hemorrhage Intellectual disability, progressive Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Supernumerary ribs Breast aplasia Open mouth Breast hypoplasia Aspiration Widely spaced teeth Self-injurious behavior Cerebral palsy Generalized osteosclerosis Thick nail Drooling Ridged nail Conical tooth Hyperkinesis Tented upper lip vermilion Platyspondyly Short palpebral fissure Cortical irregularity Camptodactyly Apnea Carcinoma Hyperhidrosis Clinodactyly Syndactyly Periosteal thickening of long tubular bones Protruding ear Hyperesthesia Cortical thickening of long bone diaphyses Anasarca Calvarial hyperostosis Thoracic dysplasia Thrombocytosis Restlessness Hyperlordosis Full cheeks Tibial bowing Opisthotonus Dysarthria Cold-induced sweating Excessive salivation Trismus Thoracolumbar scoliosis Renal cell carcinoma Limited elbow extension 2-3 toe syndactyly Round face Radial deviation of finger Cubitus valgus Scaling skin Poor suck Abnormal autonomic nervous system physiology Elbow flexion contracture Lumbar hyperlordosis Cellulitis Increased antibody level in blood Dysphagia Cardiomyopathy Decreased fetal movement Muscle cramps Muscular dystrophy Hip dislocation Hypertrophic cardiomyopathy Neonatal hypotonia Pes planus Talipes equinovarus Limb-girdle muscular dystrophy Fatigue Intrauterine growth retardation Halitosis Muscle fibrillation Bilateral ptosis Pectus carinatum Pneumonia Congenital hip dislocation Ophthalmoparesis Leukocytosis Hernia Bowing of the legs Disproportionate short-limb short stature Hydrops fetalis Short palm Facial asymmetry Irritability Proptosis Edema Spinal rigidity Minicore myopathy Stooped posture Generalized limb muscle atrophy Skeletal myopathy Type 1 muscle fiber predominance Nemaline bodies Centrally nucleated skeletal muscle fibers Tremor Respiratory distress Narrow forehead Developmental regression Spastic paraparesis Coxa valga Spastic tetraplegia Generalized myoclonic seizures Neurodegeneration Abnormality of the liver Rigidity Loss of speech Prominent forehead Cerebral atrophy Renal insufficiency Blindness Hypertension Motor aphasia Distal upper limb amyotrophy Brisk reflexes Developmental stagnation Abnormal nerve conduction velocity Decreased beta-galactosidase activity Downturned corners of mouth Long face Blepharophimosis Telecanthus Conductive hearing impairment Pectus excavatum Cryptorchidism Sea-blue histiocytosis Abnormality of the spleen Lumbar kyphosis Progressive psychomotor deterioration Decerebrate rigidity Vacuolated lymphocytes Loss of ability to walk Psychomotor deterioration Visceromegaly Peripheral axonal degeneration Pseudobulbar paralysis Pes cavus Distal sensory impairment Cranial nerve paralysis Limb ataxia Frequent falls Tetraparesis Intention tremor Peripheral demyelination Sensory neuropathy Distal amyotrophy Language impairment Peripheral axonal neuropathy Dysmetria Lower limb muscle weakness Limb muscle weakness Distal muscle weakness Abnormality of the nervous system Difficulty walking Dysdiadochokinesis Toe walking Abnormality of peripheral nerve conduction Hyperventilation Absent Achilles reflex Spinocerebellar tract degeneration Achilles tendon contracture Excessive daytime somnolence Distal lower limb amyotrophy Hand tremor Upper limb undergrowth Onion bulb formation Decreased motor nerve conduction velocity Impaired pain sensation Axonal loss Decreased number of peripheral myelinated nerve fibers Pathologic fracture Lower limb hyperreflexia Axonal degeneration Aphasia Anisometropia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Hypospadias, related diseases and genetic alterations Congestive heart failure and Abnormal blistering of the skin, related diseases and genetic alterations