Fever, and Hip dysplasia

Diseases related with Fever and Hip dysplasia

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

Top matches:

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

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 MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Other less relevant matches:

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly|eds ix|ehlers-danlos syndrome type ix|ehlers-danlos syndrome type 9|x-linked cutis laxa|ehlers-danlos syndrome, occipital horn type, formerly|eds9, formerly|cutis laxa, x-linked, formerly

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OCCIPITAL HORN SYNDROME

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive|insensitivity to pain, channelopathy-associated|asymbolia for pain

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

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

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Is also known as hsan iv|hsan4|cip-anhidrosis syndrome|neuropathy, congenital sensory, with anhidrosis|hereditary sensory and autonomic neuropathy type iv|hereditary sensory and autonomic neuropathy iv|familial dysautonomia, type ii|congenital insensitivity to pain-anhidr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4

Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).

TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME Is also known as tnf receptor 1-associated periodic syndrome|fpf|traps syndrome|hibernian fever, familial|familial hibernian fever|fhf|tnf receptor-associated periodic syndrome|tumor necrosis factor receptor-associated periodic syndrome|traps

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Edema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Hip dysplasia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pain Hyporeflexia Kyphosis Vomiting Talipes equinovarus Osteoporosis Scoliosis Hip dislocation Muscle weakness Inguinal hernia Apnea Gastroesophageal reflux Behavioral abnormality Myopathy Skeletal muscle atrophy High palate Feeding difficulties Muscular hypotonia Motor delay Ptosis Diarrhea Sleep disturbance Respiratory insufficiency Febrile seizures Visual impairment Fatigue Gait disturbance Genu valgum Peripheral neuropathy Generalized hirsutism Hernia Intellectual disability, severe Pes planus Short palm Cognitive impairment Intellectual disability, mild Strabismus Micrognathia Growth delay Ataxia Specific learning disability Microcephaly Abnormality of the pinna Attention deficit hyperactivity disorder Hypertonia Umbilical hernia Carious teeth Arthrogryposis multiplex congenita Hyperactivity Constipation Anxiety Feeding difficulties in infancy Myalgia Encephalopathy Autism Myopia Areflexia

Rare Symptoms - Less than 30% cases

Myotonia Pain insensitivity Hiatus hernia Skeletal muscle hypertrophy Adrenal insufficiency Neurological speech impairment Abnormality of immune system physiology Recurrent corneal erosions Ophthalmoparesis Cerebral calcification Bilateral ptosis Esophagitis Vertigo Impaired pain sensation Bowel incontinence Episodic fever Joint stiffness Emotional lability Wormian bones Spinal rigidity Intestinal obstruction Mask-like facies Pulmonary embolism Hypogonadotrophic hypogonadism Polymicrogyria Coxa valga Psychosis Type II diabetes mellitus Decreased fetal movement Abnormality of the cardiovascular system Amenorrhea Full cheeks Poor suck Decreased body weight Anhidrosis Abdominal pain Anemia Hepatomegaly Hyperreflexia Jaundice Pulmonary arterial hypertension Polyhydramnios Cleft palate Dysphagia Paresthesia Myoclonus Short neck Delayed skeletal maturation Cardiomyopathy Elevated serum creatine phosphokinase Renal insufficiency Headache Cataract Hypertrophic cardiomyopathy Arrhythmia Erythema Cachexia Abnormal autonomic nervous system physiology Hepatic failure Hyperhidrosis Muscle cramps Hypothermia Congenital hip dislocation Erysipelas Sensorineural hearing impairment Muscle stiffness Psychotic episodes EMG abnormality Hearing impairment Hypertelorism Malignant hyperthermia Migraine Irritability Coxa vara Delayed puberty Nystagmus Pectus excavatum Infantile muscular hypotonia Self-injurious behavior Pruritus Pectus carinatum Platyspondyly Neoplasm Low anterior hairline Failure to thrive Abnormal facial shape Hypertension Intrauterine growth retardation Ventriculomegaly Edema Congestive heart failure Long philtrum Dental crowding Dilatation EEG abnormality Cryptorchidism Delayed speech and language development Short nose Clinodactyly Gastroparesis Gait ataxia Thin upper lip vermilion Protruding ear Epileptic encephalopathy Hypermetropia Downturned corners of mouth Small hand Everted lower lip vermilion Short foot Esotropia Flexion contracture Abnormality of the dentition Polyphagia Bruising susceptibility Diabetes mellitus Dolichocephaly Stroke Neonatal hypotonia Photophobia Osteopenia Narrow mouth Weight loss Nausea Hypogonadism Soft skin Homonymous hemianopia Skeletal dysplasia Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Recurrent urinary tract infections Humerus varus Carotid artery tortuosity Aortic rupture Episodic quadriplegia Abnormality of acid-base homeostasis Progressive night blindness Bilateral intracranial calcifications Abnormality of esophagus physiology Morphological abnormality of the vestibule of the inner ear Ureteral obstruction Down-sloping shoulders Cutis laxa Persistent open anterior fontanelle Coarse hair Morphological abnormality of the inner ear Joint hypermobility Cochlear malformation Bladder carcinoma Abnormal macular morphology Abnormality of the ribs Decreased testicular size Atypical scarring of skin Dental malocclusion Hemeralopia Chronic diarrhea Microcornea Flat face Micromelia Prominent nasal bridge Narrow face Low-set, posteriorly rotated ears Spotty hypopigmentation Blepharophimosis High, narrow palate Large fontanelles Paronychia Abnormality of the face Abnormal mitochondrial morphology Edema of the dorsum of hands Hyperlordosis Abnormality of the metaphysis Osteolysis Limited knee extension Pelvic bone exostoses Convex nasal ridge Avascular necrosis of the capital femoral epiphysis Scarring Dislocated radial head Short humerus Aplastic clavicle Thick hair Femoral hernia Venous insufficiency Bladder diverticulum Abnormality of fibula morphology Narrow chest Acute kidney injury Abnormality of the sense of smell Prominent superficial veins Short clavicles Broad ribs Generalized joint laxity Abnormality of the wrist Exostoses Blue sclerae Premature skin wrinkling Joint hyperflexibility Carpal synostosis Keloids Absent tibia Long face Rickets Prominent ear helix Hepatitis Hyperextensible skin Abnormality of the skull Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Downslanted palpebral fissures Capitate-hamate fusion Redundant skin Abnormality of the skeletal system Delayed cranial suture closure Synostosis of joints Limited elbow extension High forehead Orthostatic hypotension Hydronephrosis Osteomalacia Abnormality of the pubic bone Joint laxity Large iliac wings Broad clavicles Long neck Cholestasis Brachydactyly Abnormality of movement Bowing of the long bones Heat intolerance Splenomegaly Postural hypotension with compensatory tachycardia Decreased number of small peripheral myelinated nerve fibers Autoamputation of digits Neuropathic arthropathy Acral ulceration Palmar hyperkeratosis Corneal ulceration Abnormality of dental color Hypotrichosis of the scalp Corneal scarring Lichenification Poor wound healing Lack of skin elasticity Self-mutilation Arthritis Sensory neuropathy Stooped posture Minicore myopathy Recurrent infections Hyperkeratosis Corneal opacity Nail dystrophy Decreased antibody level in blood Aseptic necrosis Nail dysplasia Thickened skin Skin ulcer Opacification of the corneal stroma Keratitis Osteomyelitis Arthralgia Skin rash Skeletal myopathy Myositis Hepatic amyloidosis Orchitis Abnormality of the sacroiliac joint Conjunctival hyperemia Optic neuritis Neuritis Pleuritis Chills Lymphocytosis Periorbital edema Elevated C-reactive protein level Recurrent pharyngitis Peritonitis Abnormal myocardium morphology Reticulocytosis Papule Cranial nerve paralysis Lymphadenopathy Chest pain Peripheral demyelination Meningitis Vasculitis Conjunctivitis Leukocytosis Uveitis Hypermelanotic macule Elevated erythrocyte sedimentation rate Macule Cellulitis Amyloidosis Pericarditis Generalized limb muscle atrophy Type 1 muscle fiber predominance Nephrolithiasis Aplasia/Hypoplasia affecting the eye Elevated aldolase level Testicular torsion Odontogenic neoplasm Shoulder flexion contracture Pursed lips Prenatal movement abnormality Metatarsus valgus Protrusio acetabuli Abnormally ossified vertebrae Flexion contracture of toe Weak voice Wrist flexion contracture Distichiasis Abnormality of the pharynx Trismus Abnormally straight spine Elbow dislocation Abnormality of epiphysis morphology Increased bone mineral density Laryngomalacia Dysphonia Abnormality of the urinary system Ectopia lentis Overfolded helix Blepharospasm High pitched voice Increased number of teeth Hip contracture Abnormality of the ureter Sprengel anomaly Abnormal eyebrow morphology Long eyelashes in irregular rows Spasticity Nemaline bodies Anosmia Centrally nucleated skeletal muscle fibers Myopathic facies Limb-girdle muscular dystrophy Generalized muscle weakness Talipes Muscular dystrophy Facial palsy Proximal muscle weakness Kyphoscoliosis Painless fractures due to injury Acetabular dysplasia Hyposmia Decreased number of peripheral myelinated nerve fibers Steppage gait Hypohidrosis Rigidity Loss of consciousness Abnormality of the cerebellar vermis Falls Frequent falls Aspiration Fasciculations Joint dislocation Hypokinesia Urinary incontinence Atonic seizures Myokymia Exaggerated startle response Nocturnal seizures Elevated hepatic transaminase Recurrent fractures Crohn's disease Personality changes Tubulointerstitial abnormality Myeloid leukemia Cor pulmonale Generalized hypopigmentation Ocular albinism Chromosome breakage Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Striae distensae Narrow nasal bridge Poor fine motor coordination External genital hypoplasia Truncal obesity Decreased muscle mass Albinism Glucose intolerance Inflammation of the large intestine Large hands Radial deviation of finger Hyperinsulinemia Precocious puberty Failure to thrive in infancy Nasal speech Scrotal hypoplasia Sleep apnea Abdominal obesity Anteverted ears Narrow palpebral fissure Cerebellar atrophy Developmental regression Mental deterioration Proteinuria Acidosis Dyspnea Hypothyroidism Cerebral cortical atrophy Dementia Rod-cone dystrophy Cerebellar hypoplasia Visual loss Depressivity Cerebral atrophy Dystonia Blindness Clitoral hypoplasia Narrow palm Frontal upsweep of hair Disseminated intravascular coagulation Triangular mouth Temperature instability Central adrenal insufficiency Hypoplastic labia minora Hypopnea Respiratory distress Almond-shaped palpebral fissure Poor gross motor coordination Acromicria Dysarthria Optic atrophy Tremor Bicuspid aortic valve Spontaneous abortion Nyctalopia Bulbous nose Focal impaired awareness seizure Tented upper lip vermilion Widely spaced teeth Sandal gap Absence seizures Short chin Finger clinodactyly Stereotypy Open mouth Hypoplasia of penis Focal-onset seizure Prominent nose Highly arched eyebrow Thick eyebrow Astigmatism Cupped ear Coarse facial features Low-set ears Frontal bossing Malar flattening Clinodactyly of the 5th finger Brachycephaly Retrognathia Aggressive behavior Facial asymmetry Postnatal growth retardation Autistic behavior Wide mouth Microtia Broad forehead Synophrys Language impairment Short attention span Increased body weight Infertility Aortic valve stenosis Bradycardia Insulin resistance Clumsiness Primary amenorrhea Cutaneous photosensitivity Oligohydramnios Narrow forehead Growth hormone deficiency Gastrointestinal hemorrhage Sepsis Hypopigmentation of the skin Tapered finger Arachnodactyly Leukemia Macrodontia Obesity Hemifacial hypoplasia Paroxysmal bursts of laughter Abnormality of lower lip Depressed nasal bridge Epicanthus Syndactyly Recurrent respiratory infections Respiratory tract infection Prominent forehead Upslanted palpebral fissure Respiratory failure Micropenis Hypoglycemia Abnormality of the nervous system Abnormality of the liver Dilated cardiomyopathy Renal Fanconi syndrome Primary adrenal insufficiency Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Thyroiditis Cardiorespiratory arrest Visual field defect Overlapping toe Bundle branch block Aphasia Vestibular dysfunction Dysphasia Hyperkalemia Prolonged QT interval Rhabdomyolysis Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Basal ganglia calcification Hyperthyroidism Delusions Facial diplegia Focal segmental glomerulosclerosis Ileus Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Proximal tubulopathy Aortic dissection Reduced consciousness/confusion Renal tubular dysfunction Tubulointerstitial nephritis Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Cerebral ischemia Gait imbalance Abnormality of peripheral nerve conduction Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of neuronal migration Hemiplegia/hemiparesis Generalized tonic-clonic seizures Abnormal cerebellum morphology Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Status epilepticus Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Memory impairment Increased serum lactate Sensory impairment Sudden cardiac death Generalized myoclonic seizures Postural instability Left ventricular hypertrophy Dysmetria Lethargy Ophthalmoplegia Congenital cataract Nausea and vomiting Malabsorption Anal atresia Confusion Coma Ichthyosis Peripheral axonal neuropathy Lactic acidosis Hirsutism Nephropathy Polyneuropathy Involuntary movements Anorexia Bifid scrotum Mutism Aplasia/Hypoplasia of the cerebellum Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Hypercalciuria Decreased nerve conduction velocity Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Hypopigmented skin patches Gingival overgrowth Type I diabetes mellitus Abnormality of retinal pigmentation Hallucinations Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia Exercise intolerance Ischemic stroke Purpura Macular degeneration Pancreatitis External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Fasciitis


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