Failure to thrive, and Erythema

Diseases related with Failure to thrive and Erythema

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

Top matches:

IL21-RELATED INFANTILE INFLAMMATORY BOWEL DISEASE Is also known as il21-related infantile ibd|il21 deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about IL21-RELATED INFANTILE INFLAMMATORY BOWEL DISEASE

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY Is also known as mcgrath syndrome|ectodermal dysplasia-skin fragility syndrome

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY

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

Other less relevant matches:

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

Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.

ACRODERMATITIS ENTEROPATHICA Is also known as inherited zinc deficiency|aez|acrodermatitis enteropathica, zinc deficiency type

Related symptoms:

  • Short stature
  • Failure to thrive
  • Visual impairment
  • Alopecia
  • Cerebral cortical atrophy


SOURCES: ORPHANET MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA

Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as ichthyosiform erythroderma, nonbullous congenital, 1, formerly|erythrodermic ichthyosis|non-bullous congenital ichthyosiform erythroderma|ncie1, formerly|cie|collodion baby, self-healing|ichthyosiform erythroderma, brocq congenital, nonbullous form, forme

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

Medium match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

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

Symptoms // Phenotype % cases
Alopecia Uncommon - Between 30% and 50% cases
Scarring Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Lymphopenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nail dystrophy Arthralgia Fever Abnormality of the nail Anemia Flexion contracture Palmoplantar keratoderma Dry skin Hyperkeratosis Inflammatory abnormality of the skin Immunodeficiency Recurrent respiratory infections Chronic diarrhea

Rare Symptoms - Less than 30% cases

Muscle weakness Paralysis Eclabion Fatigue Congenital nonbullous ichthyosiform erythroderma Lack of skin elasticity Congenital ichthyosiform erythroderma Anhidrosis Hypertension Hearing impairment Skin rash Seizures Generalized hypotonia Ataxia Intellectual disability Leukopenia Erythroderma Increased antibody level in blood Pustule Myositis Conjunctivitis Emotional lability Recurrent infections Corneal erosion Keratitis Absent eyebrow Subungual hyperkeratosis Ectropion Blepharitis Diarrhea Respiratory tract infection Alkalosis Hypokalemia Hyperhidrosis Pruritus Hypotrichosis Abnormal blistering of the skin Skin ulcer Palmoplantar hyperkeratosis Scaling skin Eczema Abnormal eyebrow morphology Epidermal acanthosis Everted lower lip vermilion Furrowed tongue Ichthyosis Psychotic mentation Vertebral compression fractures Postural instability Muscle cramps Poor wound healing Ecchymosis Generalized muscle weakness Adrenocorticotropic hormone excess Palpitations Hypotension Dehydration Tachycardia Cardiac arrest Ventricular tachycardia Macronodular adrenal hyperplasia Ventricular arrhythmia Pituitary adenoma Moon facies Hyperkinesis Nephropathy Abdominal obesity Nausea Biconcave vertebral bodies Abnormality of the menstrual cycle Increased circulating ACTH level Facial erythema Mood changes Menometrorrhagia Pain Vomiting Abnormal fear/anxiety-related behavior Arrhythmia Vertigo Constipation Abdominal pain Dorsocervical fat pad Hypercalciuria Nausea and vomiting Delayed puberty Paresthesia Confusion Peripheral edema Anxiety Hypokalemic metabolic alkalosis Polydipsia Sensory impairment Dysarthria Brachydactyly Abnormality of the skeletal system Hyporeflexia Myoclonus Gastroesophageal reflux Conductive hearing impairment Abnormality of the nervous system Hemolytic anemia Neutropenia Asthma Lymphoma Cognitive impairment Bronchiectasis Vasculitis Narrow palpebral fissure Recurrent skin infections Glomerulonephritis Combined immunodeficiency Atopic dermatitis Severe combined immunodeficiency Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Autoimmune neutropenia High palate Abnormal facial shape Polyuria Increased circulating renin level Blurred vision Prolonged QT interval Rhabdomyolysis Episodic fever Hyperventilation Hypomagnesemia Renal salt wasting Chondrocalcinosis Enuresis Tetany Metabolic alkalosis Periodic paralysis Sensorineural hearing impairment Pollakisuria Hypovolemia Hypocalciuria Hypokalemic alkalosis Oligomenorrhea Nocturia Renal potassium wasting Hypochloremia Renal magnesium wasting Salt craving Global developmental delay Scoliosis Meningioma Hypochromic anemia Increased circulating cortisol level Fasciitis Cutis marmorata Pulmonary fibrosis Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Thrombocytosis Raynaud phenomenon Antinuclear antibody positivity Low-grade fever Follicular hyperplasia Malar rash Visual impairment Telangiectasia Cerebral cortical atrophy Weight loss Photophobia Malabsorption Anorexia Poor appetite Abnormal eyelid morphology Ridged nail Abnormality of the tongue Cheilitis Glossitis Tachypnea Decreased body weight Paronychia Fragile skin Decreased antibody level in blood Hepatitis Clubbing Inflammation of the large intestine Malnutrition Severe failure to thrive Recurrent aphthous stomatitis Ectodermal dysplasia Epiphora Skin vesicle Absent eyelashes Abnormal lung morphology Woolly hair Visual loss Limitation of joint mobility Nail dysplasia Eosinophilia Parakeratosis Desquamation of skin soon after birth Cicatricial lagophthalmos Myalgia Joint stiffness Autoimmunity Ridged fingernail Generalized abnormality of skin Striae distensae Osteopenia Finger swelling Bronchiolitis obliterans organizing pneumonia Neoplasm Skeletal muscle atrophy Edema Kyphosis Obesity Depressivity Osteoporosis Diabetes mellitus Bruising susceptibility Panniculitis Hirsutism Round face Amenorrhea Thin skin Nephrolithiasis Increased body weight Generalized hirsutism Acne Glucose intolerance Truncal obesity Hyperparathyroidism Bronchiolitis obliterans Bronchiolitis Abnormality of the pinna Thrombocytopenia Small nail Open mouth Hypohidrosis Short toe Abnormality of the hair External genital hypoplasia Short finger Hypergranulosis Thin nail Dysphagia Pneumonia Calcinosis Hepatosplenomegaly Elevated hepatic transaminase Arthritis Lymphadenopathy Cerebral calcification Hypertriglyceridemia Sinusitis Hypercholesterolemia Lipodystrophy Hypermelanotic macule Microcytic anemia Cortical myoclonus


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