Fever, and Severe short stature

Diseases related with Fever and Severe short stature

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

Top matches:

High 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

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Other less relevant matches:

High 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

High 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

High match OHDO SYNDROME

OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OHDO SYNDROME

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

High match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

High match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Top 5 symptoms//phenotypes associated to Fever and Severe short stature

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Abnormality of the skeletal system Generalized hypotonia Microcephaly Proptosis Ptosis Intellectual disability Micrognathia Atrial septal defect Seizures Cryptorchidism Hepatosplenomegaly Osteoporosis Hearing impairment Posteriorly rotated ears Low-set ears Abnormal facial shape Anemia Elbow flexion contracture Apnea Pes planus Thrombocytopenia Delayed skeletal maturation Alopecia Hypotrichosis Abnormality of the foot Sloping forehead Skeletal dysplasia Clinodactyly of the 5th finger Patent ductus arteriosus Anteverted nares Ventricular septal defect Growth hormone deficiency Malar flattening Epicanthus Micropenis Cleft palate Flexion contracture Osteopenia Cataract Leukocytosis Hypogonadism Kyphoscoliosis Abnormality of the kidney Edema

Rare Symptoms - Less than 30% cases

Dry skin Pneumonia Abnormal heart morphology Joint laxity Sacral dimple Hydrocephalus Ventriculomegaly Azoospermia Hyperkeratosis Depressed nasal bridge Frontal bossing Brachydactyly Hyperreflexia Sensorineural hearing impairment Wide nasal bridge Diabetes mellitus Dyspnea Midface retrusion Strabismus Lymphoma Abnormality of the metaphysis Shock Generalized lymphadenopathy Hypergonadotropic hypogonadism Telangiectasia Muscle weakness Lymphadenopathy Reticulocytopenia Type I diabetes mellitus Abnormal cardiac septum morphology Intrauterine growth retardation High palate Downslanted palpebral fissures Hypertelorism Abnormality of cardiovascular system morphology Shoulder flexion contracture Sleep apnea Hip contracture Short thumb Short neck Respiratory distress Umbilical hernia Scoliosis Rigidity Camptodactyly Submucous cleft hard palate Pectus carinatum Platyspondyly Flat face Recurrent fractures Full cheeks Decreased testicular size Bowing of the long bones Tetralogy of Fallot Abnormality of the urinary system Hydroureter Oligohydramnios Bulbous nose Postnatal growth retardation Small for gestational age Narrow mouth Retrognathia Blepharophimosis Microtia Hip dislocation Bifid uvula Long nose Prominent nose Specific learning disability Dolichocephaly Hypsarrhythmia Short palpebral fissure Sparse and thin eyebrow Bilateral single transverse palmar creases Prominent occiput Splenomegaly Long philtrum Hyperglycemia Agenesis of corpus callosum Facial asymmetry Short palm Disproportionate short-limb short stature Diabetes insipidus Bowing of the legs Increased antibody level in blood Heterotopia Talipes Abnormality of the eye Obesity Feeding difficulties in infancy Hypoplasia of the corpus callosum Talipes equinovarus Visual impairment Nystagmus Hypoglycemia Proteinuria Malabsorption Increased body weight Osteomalacia Rickets Irritability Polydactyly Hernia Colpocephaly Pain Respiratory insufficiency Anterior pituitary hypoplasia Polyhydramnios Pancreatic hypoplasia Limb undergrowth Renal hypoplasia Exocrine pancreatic insufficiency Low-grade fever Status epilepticus Coarctation of aorta Aplasia/Hypoplasia of the iris Short metacarpal Complete duplication of thumb phalanx Duplicated collecting system Enlarged kidney Abnormal eyebrow morphology Premature birth Delayed myelination Pyridoxine-responsive sideroblastic anemia Renal cyst Single transverse palmar crease Thick vermilion border Partial duplication of thumb phalanx Meckel diverticulum Primary hypothyroidism Duodenal stenosis Pachygyria Abnormality of the metacarpal bones Lissencephaly Sparse eyelashes Absence seizures Short chin Polycythemia Knee flexion contracture Muscle stiffness Episodic fever Acute monocytic leukemia Abnormality of the hypothalamus-pituitary axis Micromelia Abnormal aortic valve morphology Abnormal form of the vertebral bodies Sparse scalp hair Fine hair Abnormal renal morphology Cerebellar vermis hypoplasia Abnormal localization of kidney Abnormality of chromosome stability Abnormal aortic morphology Abnormality of nervous system morphology Severe sensorineural hearing impairment Polymicrogyria Decreased fertility in males Clubbing of toes Bilateral camptodactyly Recurrent pharyngitis Neoplasm of head and neck Nasal obstruction Seborrheic keratosis Retroperitoneal fibrosis Skin nodule Aplasia/Hypoplasia of the uvula Histiocytosis Aplasia/Hypoplasia of fingers Upper eyelid edema Chronic rhinitis Anemic pallor Abnormality of cardiovascular system physiology Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Corneal arcus Hyperplasia of the maxilla Deficient excision of UV-induced pyrimidine dimers in DNA Prolonged G2 phase of cell cycle Broad finger Respiratory failure Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Corneal opacity Sparse hair Absent testis Abnormality of the pinna Muscular hypotonia of the trunk Abnormality of the nervous system Hydronephrosis Aspiration pneumonia Preaxial polydactyly Abnormal carotid artery morphology Glaucoma Cerebellar hypoplasia Varicose veins Compensated hypothyroidism Cerebral atrophy Hypertonia Almond-shaped palpebral fissure Communicating hydrocephalus Cognitive impairment Decreased serum testosterone level Spasticity Abnormality of the genital system Abnormality of the testis Elbow dislocation Abnormality of the distal phalanx of finger Congestive heart failure Fatigue Neoplasm Ataxia Bifid first metacarpal Cleft vertebral arch Absent knee epiphyses Enlarged metaphyses Bowed humerus Bifid femur Abnormality of the tragus Abnormality of the pubic bone Loss of eyelashes Microphthalmia Abnormality of calcium-phosphate metabolism Large iliac wings Cranial nerve paralysis Renal hypoplasia/aplasia Hypopigmented skin patches Reduced bone mineral density Abnormality of vision Hyperinsulinemia Aplasia/hypoplasia of the femur Myelodysplasia Lipoatrophy Triphalangeal thumb Renal insufficiency Headache Tracheoesophageal fistula Toe syndactyly Pancytopenia Renal agenesis Hypopigmentation of the skin Neutropenia Bruising susceptibility Abnormality of skin pigmentation Aganglionic megacolon Vertigo Recurrent urinary tract infections Cafe-au-lait spot Astigmatism Anal atresia Finger syndactyly Leukopenia Insulin resistance Abnormal vertebral morphology Spina bifida Leukemia Bone marrow hypocellularity Abnormality of the liver Hypertrophic cardiomyopathy Horseshoe kidney Carcinoma Weight loss Upslanted palpebral fissure Hypospadias Small anterior fontanelle Hypoplasia of the frontal lobes Large hands Arteriovenous malformation Absent radius Aplasia/Hypoplasia of the radius Irregular hyperpigmentation External ear malformation Hearing abnormality Epileptic spasms Short humerus Broad palm Chromosome breakage Disproportionate short stature Abnormal eyelid morphology Abnormality of the ulna B-cell lymphoma Abnormality of blood and blood-forming tissues Abnormality of the upper limb Prolonged neonatal jaundice Aplastic anemia Abnormality of the uterus Partial agenesis of the corpus callosum Cortical gyral simplification Femoral bowing Choanal atresia Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Multiple joint contractures Severe intrauterine growth retardation Acute myeloid leukemia Abnormality of the intervertebral disk Abnormal cortical gyration Abnormally ossified vertebrae Central hypothyroidism Long clavicles Aplastic clavicle Tethered cord Glucose intolerance Broad distal phalanx of finger Abnormality of the upper urinary tract Thin eyebrow Profound global developmental delay Agenesis of cerebellar vermis 11 pairs of ribs Hypoplastic ilia Multiple cafe-au-lait spots Short femur Long foot Hypoplasia of the ulna Flat acetabular roof Abnormality of finger Squamous cell carcinoma Delayed epiphyseal ossification Ectopic kidney Absent thumb Myeloid leukemia Thickened nuchal skin fold Arachnoid cyst Scleroderma Myotonia Microcytic anemia Adrenocorticotropic hormone deficiency Immunodeficiency Diarrhea Decreased circulating follicle stimulating hormone level Decreased circulating luteinizing hormone level Bitemporal hemianopia Pituitary dwarfism Septo-optic dysplasia Ectopic posterior pituitary Optic disc hypoplasia Hemianopia Cavum septum pellucidum Panhypopituitarism Skin rash Amniotic constriction ring Severe vision loss Hypopituitarism Absent septum pellucidum Short finger Precocious puberty Optic nerve hypoplasia Cerebral palsy Exercise intolerance Hypocalcemia Dehydration Abnormality of eye movement Autoimmunity Papule Autism Hashimoto thyroiditis Desquamation of skin soon after birth Abnormal lymphocyte morphology Protracted diarrhea Recurrent fungal infections B lymphocytopenia Metaphyseal chondrodysplasia Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Hypoproteinemia Severe combined immunodeficiency Thyroiditis Pruritus Aplasia/Hypoplasia of the eyebrow Combined immunodeficiency Erythroderma Scaling skin Eosinophilia Recurrent bacterial infections Short toe Chronic diarrhea Thickened skin Inflammatory abnormality of the skin Nephrotic syndrome Sepsis Severe global developmental delay Syndactyly Macrocephaly Periosteal thickening of long tubular bones Pancreatitis Aminoaciduria Abdominal distention Metabolic acidosis Hepatic steatosis Nephropathy Hyperlordosis Acidosis Constipation Vomiting Cortical irregularity Hyperesthesia Hypercholesterolemia Cortical thickening of long bone diaphyses Anasarca Calvarial hyperostosis Thoracic dysplasia Thrombocytosis Restlessness Cellulitis Tibial bowing Hyperostosis Hydrops fetalis Carious teeth Behavioral abnormality Hyperlipidemia Hypokalemia Cardiomyopathy Hyperphosphaturia Chronic acidosis Galactose intolerance Impairment of galactose metabolism Hyperuricosuria Galactosuria Albuminuria Mild proteinuria Hypergalactosemia Hypouricemia Generalized aminoaciduria Microalbuminuria Fasting hypoglycemia Ketonuria Elevated alkaline phosphatase Renal tubular dysfunction Ketosis Protuberant abdomen Poor appetite Renal tubular acidosis Hyperuricemia Glycosuria Reduced subcutaneous adipose tissue Hypophosphatemia Polyuria Polydipsia Hypercalciuria Severe B lymphocytopenia Elevated serum creatine phosphokinase Elevated erythrocyte sedimentation rate Temperature instability Conductive hearing impairment Clinodactyly Intellectual disability, mild Anterior bowing of long bones Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Generalized muscle hypertrophy Pursed lips Percussion myotonia Talipes valgus Flexion contracture of toe Retinopathy Spinal deformities Weak voice Wrist flexion contracture Hypoplasia of the musculature Coronal cleft vertebrae Constrictive median neuropathy Blepharospasm Malignant hyperthermia High pitched voice Skeletal muscle hypertrophy Overfolded helix Metaphyseal widening Low-set, posteriorly rotated ears Delayed puberty Coxa vara Primary amenorrhea Hallux valgus Stridor Psoriasiform dermatitis Lipodystrophy Plagiocephaly Osteolysis Aspiration Gynecomastia Hyperpigmentation of the skin Gingival overgrowth Bronchiectasis Hypertrichosis Ichthyosis Hypertriglyceridemia Blue sclerae Epistaxis Epidermal acanthosis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Amenorrhea Wide intermamillary distance Polyneuropathy Cleft upper lip Narrow palpebral fissure Coxa valga Elevated hepatic transaminase Toenail dysplasia Thin vermilion border Smooth philtrum Joint hyperflexibility Recurrent respiratory infections Short nose Abnormality of the dentition Optic atrophy Feeding difficulties Muscular hypotonia Unexplained fevers Diaphyseal dysplasia Beaking of vertebral bodies Interphalangeal joint contracture of finger Premature skin wrinkling Broad neck Amelogenesis imperfecta Protruding tongue Metaphyseal dysplasia Epiphyseal dysplasia Hoarse voice Rhizomelia Postnatal microcephaly Depressed nasal ridge Waddling gait Abnormality of the cerebral white matter Triangular face Widely spaced teeth Generalized hirsutism Myopia EMG abnormality Congenital hip dislocation Abnormal autonomic nervous system physiology Joint contracture of the hand Lumbar hyperlordosis Microcornea Hyperhidrosis Inguinal hernia Hyporeflexia Myopathy Dysphagia Skeletal muscle atrophy Hypertension Scrotal hypoplasia Abnormality of the cheek Neoplasm of the tongue Thyroid agenesis Ectopic thyroid Thyroid hypoplasia Abnormal nasolacrimal system morphology Bladder diverticulum Hypoplasia of teeth Abnormality of the antihelix Stenosis of the external auditory canal Atrioventricular canal defect Adducted thumb Abnormality of the preputium


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