Fever, and Skeletal dysplasia

Diseases related with Fever and Skeletal dysplasia

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

Top matches:

Medium match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Medium match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

Other less relevant matches:

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

Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004).See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1 ), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (OMIM ) on chromosome 1p36.

STUVE-WIEDEMANN SYNDROME Is also known as sws|schwartz-jampel syndrome, type 2|stws|stuve-wiedemann/schwartz-jampel type 2 syndrome|schwartz-jampel syndrome, neonatal|sjs2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about STUVE-WIEDEMANN SYNDROME

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Osteoporosis Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Midface retrusion Flexion contracture Low-set ears Generalized hypotonia Anemia Short neck Abnormality of the skeletal system Elbow flexion contracture Muscle weakness Hearing impairment Global developmental delay Kyphoscoliosis Hepatomegaly Recurrent fractures Osteopenia Micrognathia Talipes Hypothyroidism Respiratory distress Talipes equinovarus Downslanted palpebral fissures Seizures Malar flattening Motor delay Genu valgum High palate Ptosis Frontal bossing Depressed nasal bridge Feeding difficulties Hypertension Proptosis Metaphyseal widening Abnormal autonomic nervous system physiology Microcephaly Hepatosplenomegaly Severe short stature Abnormality of the dentition Muscular hypotonia Bowing of the long bones Thrombocytopenia Hyperhidrosis Smooth tongue Apnea Myopia

Rare Symptoms - Less than 30% cases

Myopathy Hyporeflexia Kyphosis Cleft palate Hip dislocation Knee flexion contracture Sacral dimple Impaired pain sensation Skeletal muscle atrophy Episodic fever Thickened cortex of long bones Cognitive impairment Absent patellar reflexes Respiratory insufficiency Failure to thrive Brachycephaly High pitched voice Camptodactyly Pectus carinatum Platyspondyly Flat face Decreased testicular size Lumbar hyperlordosis Spondyloepiphyseal dysplasia Myotonia Flexion contracture of toe Narrow mouth Temperature instability Talipes valgus Pursed lips Opacification of the corneal stroma Abnormal lung morphology Congestive heart failure Recurrent infections Microdontia Pes planus Delayed skeletal maturation Patent foramen ovale Waddling gait Blepharophimosis Abnormality of the foot Short palpebral fissure Congenital contracture Malignant hyperthermia Multiple skeletal anomalies Elevated hepatic transaminase Joint laxity Rhizomelia Inguinal hernia Hoarse voice Epiphyseal dysplasia Cataract Cardiomyopathy Malabsorption Neutropenia Pulmonary arterial hypertension Pain Dysphagia Paresthesia Corneal opacity Nephrotic syndrome Combined immunodeficiency Premature birth Reduced bone mineral density Migraine Abnormality of the metaphysis Cellular immunodeficiency Papule Skin rash Autoimmunity Shock Pneumonia Arthralgia Meningitis Leukocytosis Joint dislocation Immunodeficiency Lymphadenopathy Lymphoma Visual impairment Splenomegaly Intrauterine growth retardation Edema Diarrhea Macrocephaly Broad long bones Contracture of the proximal interphalangeal joint of the 5th finger Square face Wide nasal base Disproportionate short-trunk short stature Ulnar deviation of the hand Hypoplastic iliac body Enlarged joints Ovoid vertebral bodies Elevated pulmonary artery pressure B-cell lymphoma Mitochondrial respiratory chain defects Lumbar scoliosis Lymphoproliferative disorder Increased thyroid-stimulating hormone level Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Megaloblastic anemia Abnormal T cell morphology Encephalomalacia Shallow acetabular fossae Villous atrophy Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Right ventricular cardiomyopathy Protuberant abdomen Increased upper to lower segment ratio Abnormal form of the vertebral bodies Hyperlipidemia Atherosclerosis Pulmonary arterial medial hypertrophy Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Heterotopia Fine hair Coarse hair Intellectual disability, profound Brain atrophy Gliosis Abnormal cerebellum morphology Nephropathy Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Azoospermia Chronic kidney disease Thoracic kyphosis Hypermelanotic macule Transient ischemic attack Shivering Abnormality of the vasculature Wide nasal bridge Glomerulopathy Multiple cafe-au-lait spots Steatorrhea Emphysema Encephalitis Focal segmental glomerulosclerosis Broad ischia Abnormal metaphyseal trabeculation Melanocytic nevus Blotching pigmentation of the skin Nephritis Glomerulonephritis Glomerulosclerosis Hypertelorism Hydrocephalus Ventricular septal defect Small hand Short nose Clinodactyly Visual loss Patent ductus arteriosus Congenital glaucoma Respiratory failure Hepatic failure Pulmonary hypoplasia Thoracic hypoplasia Bilateral elbow dislocations Single transverse palmar crease Limb undergrowth Decreased fetal movement Thin skin Short phalanx of finger Metatarsus adductus Radioulnar synostosis Sensorimotor neuropathy Narrow face Peripheral neuropathy Metacarpophalangeal joint hyperextensibility Bicuspid aortic valve Accessory carpal bones Knee dislocation Talipes equinovalgus Endocardial fibroelastosis Deep palmar crease Small face Generalized osteoporosis Multiple joint dislocation Shoulder dislocation Hypertropia 11 pairs of ribs Restrictive ventilatory defect Enlarged metaphyses Prominent antitragus Spatulate thumbs Overlapping fingers Abnormally large globe Upper limb undergrowth Broad distal phalanges of all fingers Aortic root aneurysm Narrow nasal bridge Hyperextensible skin Cutis laxa Short tibia Microtia Thick eyebrow Arachnodactyly Pulmonic stenosis Narrow chest Tibial bowing Hypokinesia Pathologic fracture Hypermetropia Abnormal cardiac septum morphology Flared metaphysis Cerebral cortical atrophy Glaucoma Prominent forehead Abnormal heart morphology Hernia Abnormality of the abdominal wall Anteverted nares Thin ribs Ulnar deviation of finger Femoral bowing Short metacarpal Paraparesis Spastic paraparesis Sandal gap Aminoaciduria Accelerated skeletal maturation Microretrognathia Lymphedema Amblyopia Abnormality of dental enamel Left ventricular hypertrophy Mitral regurgitation Blue sclerae Esotropia Low posterior hairline Cardiomegaly Adducted thumb Congenital diaphragmatic hernia Nasal speech Cubitus valgus Mitral valve prolapse Webbed neck Mask-like facies Bilateral talipes equinovarus Malar prominence Astigmatism Abnormality of neutrophils Asthma Micromelia Camptodactyly of finger Feeding difficulties in infancy Abnormality of the eye Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Inflammatory abnormality of the eye Oligohydramnios Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Juvenile rheumatoid arthritis Uveitis Amyloidosis Arthropathy Abnormal joint morphology Limitation of joint mobility Hypohidrosis Elevated erythrocyte sedimentation rate Areflexia Generalized muscle weakness Downturned corners of mouth Long face Arthrogryposis multiplex congenita Facial palsy Telecanthus Proximal muscle weakness Conductive hearing impairment Pectus excavatum Abnormality of vision Ventriculomegaly Epicanthus Cryptorchidism Flexion contracture of finger Decreased corneal reflex Ectopic thyroid Lacrimation abnormality Abnormal cortical bone morphology Trismus Progressive sensorineural hearing impairment Urticaria Open mouth Increased body weight Hashimoto thyroiditis Thyroiditis Aplasia/Hypoplasia of the eyebrow Erythroderma Scaling skin Eosinophilia Disproportionate short-limb short stature Recurrent bacterial infections Short toe Hypoproteinemia Chronic diarrhea Thickened skin Inflammatory abnormality of the skin Sepsis Dry skin Hypotrichosis Pruritus Alopecia Severe combined immunodeficiency Recurrent viral infections Increased intracranial pressure Fatigue Purpura Vasculitis Overgrowth Nausea and vomiting Arthritis Myalgia EEG abnormality Blindness Brachydactyly Hypoplasia of the thymus Sensorineural hearing impairment Severe B lymphocytopenia Desquamation of skin soon after birth Abnormal lymphocyte morphology Generalized lymphadenopathy Protracted diarrhea Recurrent fungal infections B lymphocytopenia Metaphyseal chondrodysplasia Narrow forehead Tented upper lip vermilion Stroke Generalized hirsutism Blepharospasm Hip contracture Skeletal muscle hypertrophy Overfolded helix Sleep apnea Narrow palpebral fissure Coxa vara Coxa valga EMG abnormality Coronal cleft vertebrae Congenital hip dislocation Joint contracture of the hand Full cheeks Microcornea Rigidity Umbilical hernia Monochromacy Hypersplenism Constrictive median neuropathy Hypoplasia of the musculature Abnormality of the hypothalamus-pituitary axis Renal insufficiency Scarring Hyperlordosis Developmental regression Abnormality of the kidney Proteinuria Thin upper lip vermilion Dementia Headache Vomiting Wrist flexion contracture Cerebellar atrophy Anterior bowing of long bones Long eyelashes in irregular rows Abnormality of femoral epiphysis Generalized muscle hypertrophy Shoulder flexion contracture Percussion myotonia Spinal deformities Weak voice Abnormal hemoglobin Neoplasm of the liver Gowers sign Depressed nasal ridge Toenail dysplasia Beaking of vertebral bodies Premature skin wrinkling Broad neck Amelogenesis imperfecta Protruding tongue Metaphyseal dysplasia Postnatal microcephaly Growth hormone deficiency Diaphyseal dysplasia Abnormality of the cerebral white matter Posteriorly rotated ears Elevated serum creatine phosphokinase Long philtrum Strabismus Restrictive deficit on pulmonary function testing Ankle contracture Myopathic facies Anterior pituitary hypoplasia Unexplained fevers Cardiorespiratory arrest Skin ulcer Abnormality of the skull Increased serum ferritin Hypoparathyroidism Microcytic anemia Adrenal insufficiency Abnormality of the thorax Cholelithiasis Venous thrombosis Cirrhosis Depressivity Delayed puberty Nyctalopia Pallor Anxiety Jaundice Dyspnea Diabetes mellitus Upslanted palpebral fissure Arrhythmia Metaphyseal rarefaction


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