Failure to thrive, and Skin rash

Diseases related with Failure to thrive and Skin rash

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

Top matches:

Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).

INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME Is also known as otulipenia|oras|otulin deficiency|otulin-related autoinflammatory syndrome

Related symptoms:

  • Failure to thrive
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME

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

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Other less relevant matches:

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 57; IMD57

SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 Is also known as xscid|severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative|imd4|scidx|immunodeficiency 4|scid, x-linked

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive|epstein-barr virus, susceptibility to chronic infection by|immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive|caebv syndrome|chronic ebv infection syndrome

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME

Medium match RETICULAR DYSGENESIS

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

RETICULAR DYSGENESIS Is also known as congenital aleukia|scid with leukopenia|de vaal disease|hematopoietic hypoplasia, generalized|reticular dysgenesia|congenital aleukocytosis|severe combined immunodeficiency with leukopenia|ak2 deficiency|aleukocytosis|generalized hematopoietic hypoplasia

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETICULAR DYSGENESIS

Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome|nlrc4-related infantile enterocolitis-autoinflammatory syndrome|nlrc4-related autoinflammatory syndrome with macrophage activation syndrome|nlrc4-related mas|nlrc4-related autoinflammatory syndrome with mas

Related symptoms:

  • Seizures
  • Short stature
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PANCREATIC INSUFFICIENCY-ANEMIA-HYPEROSTOSIS SYNDROME

STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.

STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY Is also known as savi

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Skin rash

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Lymphopenia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Recurrent infections Hepatomegaly Lymphadenopathy Arthralgia Growth delay Hepatosplenomegaly Severe combined immunodeficiency Decreased antibody level in blood Vasculitis Myalgia Pneumonia Recurrent respiratory infections

Rare Symptoms - Less than 30% cases

Hypoplasia of the thymus Abnormality of the coagulation cascade Global developmental delay Bronchiectasis Abnormal lung morphology Arthritis Leukopenia Pancytopenia Fatigue Combined immunodeficiency Vomiting Antinuclear antibody positivity Asthma Scarring Thrombocytopenia Inflammation of the large intestine Elevated erythrocyte sedimentation rate Tachypnea Disseminated intravascular coagulation Enterocolitis Raynaud phenomenon Myositis Increased serum ferritin Low-grade fever Colitis Follicular hyperplasia Malar rash Loss of consciousness Diffuse alveolar hemorrhage Decreased liver function Tachycardia Pain Short stature Seizures Lack of T cell function Congenital agranulocytosis Agranulocytosis Aplasia/Hypoplasia of the thymus Aplasia of the thymus Abnormality of the thymus Granulocytopenia Secretory diarrhea Jaundice Delayed skeletal maturation Anemia of inadequate production Telangiectasia Decreased body weight Nail dystrophy Pulmonary fibrosis Autoimmunity Joint stiffness Erythema Increased antibody level in blood Calvarial hyperostosis Erythroid hyperplasia Allergic rhinitis Abnormality of neutrophils Osteopenia Interstitial pulmonary abnormality Thrombocytosis Exocrine pancreatic insufficiency Rhinitis Steatorrhea Malnutrition Hyperostosis Pustule Scaling skin Hyperbilirubinemia Carious teeth Cutis marmorata Impaired T cell function Respiratory tract infection Cellular immunodeficiency Cough Gastritis Chronic lung disease Failure to thrive secondary to recurrent infections Recurrent opportunistic infections Oral ulcer Decrease in T cell count Increased body weight Recurrent otitis media Inflammatory abnormality of the skin Eczema Otitis media Gastroesophageal reflux Chronic diarrhea Cervical lymphadenopathy Decreased mean platelet volume Lymphocytosis Abnormal thrombocyte morphology Immune dysregulation Eosinophilia Panniculitis Neutrophilia Joint swelling Leukocytosis Lipodystrophy Bloody diarrhea Meningitis IgA deficiency Sinusitis Chronic otitis media Abnormality of mitochondrial metabolism Skin ulcer Dehydration Sepsis Malabsorption Weight loss Hearing impairment Chronic infection Recurrent sinusitis Recurrent pneumonia Lymphoma Bronchitis Hepatic failure Respiratory failure Dilatation Neoplasm Recurrent bacterial meningitis Chronic oral candidiasis Plethora Humoral immunodeficiency Choroideremia Recurrent fungal infections Recurrent bronchitis Agammaglobulinemia Fasciitis


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