Failure to thrive, and Atopic dermatitis

Diseases related with Failure to thrive and Atopic dermatitis

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

Top matches:

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige|comÈl-netherton syndrome|bamboo hair syndrome|comel-netherton syndrome|ns|netherton disease

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NETHERTON SYNDROME

High 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

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Other less relevant matches:

High match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY Is also known as zeta-associated-protein 70 deficiency|selective t-cell defect|stcd

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS Is also known as caspase 8 deficiency syndrome|autoimmune lymphoproliferative syndrome, type iib|alps2b|ceds|alps with recurrent viral infections

Related symptoms:

  • Short stature
  • Failure to thrive
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS

Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.

HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY Is also known as hed-id|anhidrotic ectodermal dysplasia with immunodeficiency|eda-id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY

Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). Genetic Heterogeneity of Lectin Complement Activation Pathway DefectsSee also LCAPD2 (OMIM ), caused by variation in the MASP2 gene (OMIM ) on chromosome 1p36, and LCAPD3 (OMIM ), caused by variation in the FCN3 gene (OMIM ) on chromosome 1p36.

MANNOSE-BINDING LECTIN DEFICIENCY; MBLD Is also known as mbl deficiency|mbl2 deficiency|lcapd1|mannose-binding protein deficiency|mbp deficiency|lectin complement activation pathway, defect in, 1

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MANNOSE-BINDING LECTIN DEFICIENCY; MBLD

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

Top 5 symptoms//phenotypes associated to Failure to thrive and Atopic dermatitis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Eczema Gastroesophageal reflux Ichthyosis Seizures Recurrent skin infections Pneumonia Hearing impairment Recurrent infections Growth delay Dysarthria High palate Generalized hypotonia Scoliosis Splenomegaly Respiratory tract infection Erythema Hypertrophic cardiomyopathy Hepatomegaly Ventriculomegaly Ataxia Vomiting Feeding difficulties Asthma Hypertelorism Pruritus Ptosis Cardiomyopathy Delayed skeletal maturation Inflammatory abnormality of the skin Short neck Fever

Rare Symptoms - Less than 30% cases

Ventricular hypertrophy High, narrow palate Low posterior hairline Coarctation of aorta Hydrocephalus Growth hormone deficiency Atrial septal defect Webbed neck Prominent forehead Carious teeth Short nose Joint hypermobility Hypothyroidism Abnormality of cardiovascular system morphology Pectus excavatum Pulmonic stenosis Hypotrichosis Dolichocephaly Pectus carinatum Attention deficit hyperactivity disorder Sparse hair Cafe-au-lait spot Posteriorly rotated ears High forehead Macrotia Umbilical hernia Cerebral visual impairment Hyperpigmentation of the skin Cerebral atrophy Dysphagia Scarring Blindness Congestive heart failure Abnormality of the dentition Hypertonia Kyphosis Depressivity Cataract Encephalopathy Peripheral axonal neuropathy Constipation Cerebral cortical atrophy Autism Neurological speech impairment EEG abnormality Myalgia Optic atrophy Muscular hypotonia Abnormal palate morphology Arnold-Chiari type I malformation Optic nerve hypoplasia Relative macrocephaly Deep philtrum Failure to thrive in infancy Aplasia/Hypoplasia of the eyebrow Neoplasm Neurodevelopmental delay Decreased body weight Nystagmus Hemiparesis Abnormality of the testis Abnormality of refraction Slow-growing hair Thickened helices Abnormality of the pulmonary artery Abnormal location of ears Abnormality of the cardiovascular system Anteverted nares Low-set, posteriorly rotated ears Ventricular septal defect Scaling skin Hyporeflexia Brachydactyly Anemia Cognitive impairment Abnormal facial shape Sensorineural hearing impairment Lymphadenopathy Chronic diarrhea Allergic rhinitis Downslanted palpebral fissures Malnutrition Brittle hair Sensory impairment Sparse eyelashes Sparse scalp hair Fine hair Sepsis Dry skin Malabsorption Skin rash Hydronephrosis Weight loss Recurrent respiratory infections Alopecia Myoclonus Feeding difficulties in infancy Bronchiectasis Low-set ears Micrognathia Strabismus Combined immunodeficiency Vasculitis Cryptorchidism Bilateral ptosis Delayed speech and language development Epicanthus Macrocephaly Severe combined immunodeficiency Polyhydramnios Abnormality of the kidney Delusions Nail dystrophy Leukemia Amaurosis fugax Abnormal cardiac septum morphology Cardiorespiratory arrest Facial diplegia Tubulointerstitial nephritis Irritability Hyperhidrosis Osteopenia Abnormality of the eye Renal tubular dysfunction Aortic dissection Telecanthus Aggressive behavior Posterior subcapsular cataract Coarse facial features Hyperkeratosis Proptosis Transient ischemic attack Writer's cramp Renal Fanconi syndrome Retinal dystrophy Premature birth Intestinal malrotation Vesicoureteral reflux Nevus Full cheeks Abnormal bleeding Abdominal distention Palmoplantar keratoderma Sleep disturbance Hepatic steatosis Thick vermilion border Bruising susceptibility Abnormality of the cerebral white matter Bulbous nose Falls Long face Abnormality of skin pigmentation Astigmatism Abnormal nerve conduction velocity Mitochondrial myopathy Progressive external ophthalmoplegia Clinodactyly of the 5th finger Hypermetropia Auditory hallucinations Genu valgum Abnormal heart morphology Visual hallucinations Cochlear malformation Episodic quadriplegia Hemianopia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Abnormality of the renal tubule Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Leber optic atrophy Abnormality of the cerebellar vermis Progressive night blindness Edema of the dorsum of hands Proximal tubulopathy Dental malocclusion Crohn's disease Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Episodic vomiting Hemeralopia Persistence of primary teeth Abnormal macular morphology Motor polyneuropathy Dysesthesia Psychomotor deterioration Muscle fiber atrophy Ileus Bilateral intracranial calcifications Inguinal hernia Stroke-like episode Increased CSF lactate Hernia Thrombocytopenia Malar flattening Tubulointerstitial abnormality Wolff-Parkinson-White syndrome Long philtrum Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Behavioral abnormality Edema Morphological abnormality of the vestibule of the inner ear Seborrheic dermatitis Frontal bossing Myopia Left ventricular failure Depressed nasal bridge Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Gastroparesis Spontaneous hematomas Prominent ear helix Morphological abnormality of the inner ear Psychotic episodes Intellectual disability, severe Underdeveloped supraorbital ridges Progressive visual loss Abnormal tricuspid valve morphology Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormality of the optic disc Abnormality of the auditory canal Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Abnormal mitral valve morphology Inappropriate crying Multiple palmar creases Deep palmar crease Respiratory failure Neutrophilia Joint swelling Leukocytosis Lipodystrophy Arthralgia Disseminated cryptosporidium infection Recurrent meningococcal disease Susceptibility to herpesvirus Recurrent Klebsiella infections IgA deficiency Recurrent bacterial infections Meningitis Otitis media Dysgammaglobulinemia Eyelid fasciculation Intractable diarrhea Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Pulmonary insufficiency Ectodermal dysplasia Defective B cell activation Decreased T cell activation Recurrent sinopulmonary infections Recurrent candida infections Panhypogammaglobulinemia Eczematoid dermatitis Oral aversion Multiple plantar creases Gastrointestinal dysmotility Abnormal myocardium morphology Narrow forehead Delayed gross motor development Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Sparse eyebrow Redundant skin Hyperextensible skin Poor suck Abnormality of vision Palmoplantar hyperkeratosis Abnormality of the genitourinary system Absent eyebrow Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Cutis laxa Oculomotor apraxia Narrow palate Abnormality of the nail Aspiration Lymphedema Thickened skin Open mouth Myocardial infarction Cardiomegaly Obsessive-compulsive behavior Large for gestational age Delayed CNS myelination Alopecia of scalp Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Abnormal eyelash morphology Poor appetite Open bite Heart block Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Hydroureter Hypoparathyroidism Abnormality of retinal pigmentation Xerostomia Hypomagnesemia Muscle weakness Microcephaly Abnormality of the nasal bridge Broad fingertip Loose anagen hair Superior pectus carinatum Abnormality of the intervertebral disk Dermal translucency Peripheral pulmonary artery stenosis Redundant neck skin Enlarged cisterna magna Abnormally large globe Fragile nails Visual impairment Hiatus hernia Abnormality of the elbow Broad neck Natal tooth Freckling Abnormality of coagulation Right bundle branch block Hypoplastic toenails Overfolded helix Patent foramen ovale Nasal speech Coarse hair Increased intracranial pressure Pain Motor delay Infantile muscular hypotonia Arrhythmia Acidosis Dyspnea Gait ataxia Abdominal pain Diabetes mellitus Hypogonadism Osteoporosis Dementia Rod-cone dystrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Areflexia Visual loss Hypertension Headache Renal insufficiency Dystonia Cerebellar atrophy Myopathy Respiratory distress Respiratory insufficiency Fatigue Gait disturbance Tremor Skeletal muscle atrophy Hyperreflexia Peripheral neuropathy Arnold-Chiari malformation Abnormality of the fingernails Photophobia Congenital ichthyosiform erythroderma Hypernatremia Immunologic hypersensitivity Angioedema Increased IgE level Trichorrhexis nodosa Congenital nonbullous ichthyosiform erythroderma Allergy Verrucae Villous atrophy Hypothermia Severe postnatal growth retardation Irregular hyperpigmentation Abnormality of the musculature Brittle scalp hair Ectopic kidney Emphysema Erythroderma Psoriasiform dermatitis Intracranial hemorrhage Urticaria Abnormal intestine morphology Acanthosis nigricans Aminoaciduria Abnormality of the hair Sparse and thin eyebrow Dehydration Decreased antibody level in blood Hypernatremic dehydration IgE-mediated food allergy Hypocalcemia Hyperactivity Hoarse voice Thin skin Mitral regurgitation Thick lower lip vermilion Cyanosis Dandy-Walker malformation Wide intermamillary distance Thin vermilion border Craniosynostosis Postnatal growth retardation Hypoglycemia Retrognathia Patent ductus arteriosus Abnormality of the skeletal system Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Glomerulonephritis Leukopenia Narrow palpebral fissure Lymphopenia Lymphoma Neutropenia Hemolytic anemia Abnormality of the nervous system Conductive hearing impairment Jaundice Anxiety Vitiligo Growth abnormality Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Easy fatigability Bifid scrotum Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Exercise intolerance Aplasia/Hypoplasia of the cerebellum Mask-like facies Hypogonadotrophic hypogonadism Glomerulopathy Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Hemiplegia/hemiparesis Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Type I diabetes mellitus Generalized hirsutism Proteinuria Nausea and vomiting Polyneuropathy Nephropathy Hirsutism Polymicrogyria Nausea Lactic acidosis Vertigo Confusion Paresthesia Dysmetria Anal atresia Delayed puberty Congenital cataract Postural instability Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Dilated cardiomyopathy Stroke Nyctalopia Abnormality of the liver Protruding ear Abnormality of the pinna Developmental regression Mental deterioration Apnea Coma Muscle cramps EMG abnormality Pulmonary arterial hypertension Truncal ataxia Cardiac arrest Clonus Hallucinations Gingival overgrowth Anorexia Left ventricular hypertrophy Involuntary movements Hypertrichosis Atrial fibrillation Psychosis Status epilepticus Type II diabetes mellitus Abnormal cerebellum morphology Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Memory impairment Increased serum lactate Migraine Sudden cardiac death Generalized myoclonic seizures Panniculitis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Craniosynostosis, related diseases and genetic alterations Myopia and Sepsis, related diseases and genetic alterations Peripheral neuropathy and Absent speech, related diseases and genetic alterations Cleft palate and Amenorrhea, related diseases and genetic alterations