Failure to thrive, and Eosinophilia

Diseases related with Failure to thrive and Eosinophilia

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

Top matches:

PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017).

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID

Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.

SELF-IMPROVING COLLODION BABY Is also known as shcb|self-improving congenital ichthyosis|self-healing collodion baby|ichthyosis congenita|desquamation of newborn|sici|collodion fetus|icr2|ichthyosis congenita ii|ichthyosis, lamellar, 1, formerly|li1, formerly|lamellar exfoliation of newborn|collodion

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Visual loss
  • Alopecia
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SELF-IMPROVING COLLODION BABY

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

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

Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

High 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

Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Top 5 symptoms//phenotypes associated to Failure to thrive and Eosinophilia

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Eosinophilia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sepsis Intellectual disability Hepatosplenomegaly Seizures Pneumonia Skin rash Lymphadenopathy Fever Splenomegaly Global developmental delay Generalized hypotonia Erythroderma Muscular hypotonia Cellular immunodeficiency Severe combined immunodeficiency Combined immunodeficiency Autoimmunity Inflammatory abnormality of the skin Hypertension Hepatomegaly Alopecia Asthma Recurrent upper respiratory tract infections Chronic diarrhea

Rare Symptoms - Less than 30% cases

Lymphoma Hypoproteinemia Recurrent viral infections Increased body weight B lymphocytopenia Recurrent fungal infections Thyroiditis Severe B lymphocytopenia Recurrent bacterial infections Papule Fatigue Ataxia Aspiration Strabismus Respiratory distress Allergy Abnormality of the skeletal system Short stature Purpura Tetraplegia Neoplasm Leukopenia Pancytopenia Motor delay Neutropenia Malabsorption Pallor Respiratory tract infection Irritability Feeding difficulties in infancy Recurrent respiratory infections Hypertonia Vomiting Malnutrition Autoimmune hemolytic anemia Cataract Abnormality of the coagulation cascade Cardiac arrest Scarring Hypothyroidism Hyperkeratosis Growth delay Hemolytic anemia Visual loss Nail dystrophy Desquamation of skin soon after birth Hepatitis Nephrotic syndrome Erythema Hypotrichosis Dry skin Immune dysregulation Nail dysplasia Optic atrophy Short digit Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Spasticity Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Visual impairment Fatty replacement of skeletal muscle Microcephaly Sparse hair Abnormality of the dentition Ectodermal dysplasia Coarse hair Hemivertebrae Increased bone mineral density Hyperpigmentation of the skin Partial duplication of thumb phalanx Lymphedema Fine hair Abnormal blistering of the skin Nevus Microphthalmia Aplasia of the ulna Hypodontia Hypopigmentation of the skin Delayed eruption of teeth Retinal detachment Abnormality of skin pigmentation Abnormal myelination Kyphoscoliosis Decreased activity of mitochondrial respiratory chain Mesoaxial polydactyly 3-Methylglutaconic aciduria Dyspnea Generalized muscle weakness Lactic acidosis Congenital cataract Stroke Mental deterioration Hypertrophic cardiomyopathy Osteopenia Acidosis Glaucoma Aciduria Cerebellar hypoplasia Headache Congestive heart failure Myopathy Cardiomyopathy Lactose intolerance Patellar subluxation Respiratory insufficiency Increased serum lactate Tibial torsion Skeletal myopathy Abnormality of mitochondrial metabolism Organic aciduria Right ventricular hypertrophy Hyperostosis Cardiorespiratory arrest Meningocele Mitochondrial myopathy Aplasia of the pectoralis major muscle Hypoplasia of the brainstem Premature ovarian insufficiency Esotropia Abnormal electroretinogram Easy fatigability Ragged-red muscle fibers Tachypnea Corneal dystrophy Exercise intolerance Hemiparesis Pulmonary arterial hypertension Keratitis Anodontia Supernumerary nipple Abnormal cardiac septum morphology Abnormality of the cardiovascular system Gastrointestinal hemorrhage Limited elbow extension Bruising susceptibility Nausea Absent thumb Atrioventricular canal defect Polydactyly Coarctation of aorta Short humerus Oligodactyly Abnormal heart morphology Patent ductus arteriosus Clinodactyly Absent radius Thoracic scoliosis Mitral valve prolapse Petechiae Heart block Horseshoe kidney Hypoplasia of the ulna Menorrhagia Triphalangeal thumb Atrioventricular block Hypoplasia of the radius Aortic regurgitation Finger clinodactyly Bundle branch block Epistaxis Right bundle branch block Aortic valve stenosis Bradycardia Abnormal vertebral morphology Hypoplastic left heart Short thumb Atrial fibrillation Short clavicles Truncus arteriosus Hypoplastic nipples Thick nail Small thenar eminence Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Supernumerary ribs Breast aplasia Breast hypoplasia Generalized osteosclerosis Ridged nail Nail pits Conical tooth Bowing of the legs Hypoplasia of the fovea Abnormality of the vasculature Pustule Abnormality of the carpal bones Uveitis Retinal hemorrhage Hyperpigmented streaks Down-sloping shoulders Ventricular septal defect Secundum atrial septal defect Ecchymosis Pectus excavatum Abnormality of cardiovascular system morphology Complete atrioventricular canal defect Atrial septal defect Anomalous pulmonary venous return Phocomelia Retinal vascular proliferation Frontal bossing Total anomalous pulmonary venous return Hematemesis Depressed nasal bridge Cleft palate Micrognathia Atrophic, patchy alopecia Syndactyly Polyneuritis Myopia Scaling skin Generalized lymphadenopathy Protracted diarrhea Metaphyseal chondrodysplasia Hypoplasia of the thymus Hashimoto thyroiditis Aplasia/Hypoplasia of the eyebrow Leukocytosis Disproportionate short-limb short stature Peripheral neuropathy Shock Short toe Thickened skin Abnormality of the metaphysis Pruritus Severe short stature Edema Abnormal lymphocyte morphology Hyperreflexia Intractable diarrhea Cerebral calcification Drowsiness Macrocytic anemia Basal ganglia calcification Abnormality of the immune system Athetosis Anorexia Recurrent urinary tract infections Focal-onset seizure Skeletal muscle atrophy Decreased antibody level in blood Dyskinesia Abnormality of movement Nausea and vomiting Gastroesophageal reflux Behavioral abnormality Tremor Secretory diarrhea Pancreatic hypoplasia Megaloblastic anemia Flexion contracture Palmoplantar hyperkeratosis Epidermal acanthosis Limitation of joint mobility Palmoplantar keratoderma Everted lower lip vermilion Ichthyosis Hyperhidrosis Cervical lymphadenopathy Absent eyebrow Decreased mean platelet volume Lymphocytosis Abnormal thrombocyte morphology Antinuclear antibody positivity Elevated erythrocyte sedimentation rate Inflammation of the large intestine Vasculitis Ectropion Anhidrosis Ileus Eczema Villous atrophy Ketoacidosis Abnormality of the thyroid gland Hyperglycemia Nephritis Abnormal intestine morphology Type I diabetes mellitus Arthritis Congenital ichthyosiform erythroderma Diabetes mellitus Intrauterine growth retardation Cicatricial lagophthalmos Eclabion Subungual hyperkeratosis Congenital nonbullous ichthyosiform erythroderma Lack of skin elasticity Parakeratosis Proximal amyotrophy Cheilitis Muscle weakness Sinusitis Recurrent lower respiratory tract infections Autoimmune thrombocytopenia IgA deficiency Abnormality of pelvic girdle bone morphology Leukoencephalopathy Recurrent pneumonia Lymphopenia Recurrent otitis media Verrucae Platyspondyly Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration B-cell lymphoma IgM deficiency Granulocytopenia Absence of lymph node germinal center Nystagmus Absent specific antibody response Reduced red cell adenosine deaminase activity Anti-thyroid peroxidase antibody positivity Lack of T cell function Abnormality of humoral immunity Absent tonsils Immunoglobulin IgG2 deficiency Increased IgE level Recurrent opportunistic infections Cortical sclerosis Aplasia of the thymus Anterior rib cupping Diffuse mesangial sclerosis Decrease in T cell count Pulmonary insufficiency T-cell lymphoma Increased total bilirubin Normocytic anemia Abnormality of the liver Hypertriglyceridemia Peripheral demyelination Gliosis Coma Hepatic failure Confusion Leukemia Abnormality of the nervous system Hyperbilirubinemia Elevated hepatic transaminase Jaundice Encephalopathy Folate-responsive megaloblastic anemia Glossitis Folate deficiency Oral ulcer Meningitis Increased intracranial pressure Partial albinism Acute leukemia Increased LDL cholesterol concentration Hemophagocytosis Histiocytosis Prolonged prothrombin time Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Increased serum ferritin Encephalitis Increased CSF protein Pulmonary infiltrates Episodic fever Increased antibody level in blood Albinism Hyponatremia Hemiplegia Hypoalbuminemia Quadricuspid aortic valve


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