Growth delay, and Eosinophilia

Diseases related with Growth delay and Eosinophilia

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


Top matches:

Low match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


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

Low 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

Low match IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

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Other less relevant matches:

Low match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


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

Low 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

Low match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Low match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Low match HOLT-ORAM SYNDROME; HOS


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

Low match ROBERTS SYNDROME; RBS


Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Top 5 symptoms//phenotypes associated to Growth delay and Eosinophilia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Growth delay and Eosinophilia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Failure to thrive Cataract Strabismus Ventricular septal defect Hepatosplenomegaly Muscular hypotonia Anemia Sepsis Microcephaly Edema Pneumonia Motor delay Glaucoma Lymphadenopathy Skin rash Fatigue Atrial septal defect Absent radius Cleft palate Blue sclerae Microphthalmia Horseshoe kidney Recurrent infections Diarrhea Generalized hypotonia Brachydactyly Depressed nasal bridge Phocomelia Alopecia Clinodactyly Inflammatory abnormality of the skin Micrognathia Erythroderma

Rare Symptoms - Less than 30% cases


Kyphoscoliosis Intermittent thrombocytopenia Decreased antibody level in blood Bilateral radial aplasia Tetraphocomelia Single transverse palmar crease Craniosynostosis Skeletal dysplasia Pectus excavatum Spasticity Finger syndactyly Cardiorespiratory arrest Brachycephaly Retinal detachment Abnormality of skin pigmentation Visual impairment Abnormality of the kidney Cleft lip Sparse hair Corneal opacity Scoliosis Coxa valga Respiratory distress Supernumerary nipple Keratitis Allergy Pulmonary arterial hypertension Aplasia of the ulna Tachypnea Abnormal blistering of the skin Cerebellar hypoplasia Congestive heart failure Erythema Uveitis Tibial torsion Supernumerary ribs Lactose intolerance Hypertension Hypodontia Malar flattening Delayed eruption of teeth Retinal hemorrhage Oligodactyly Retinal vascular proliferation Hyperkeratosis Hypoplasia of the radius Nystagmus Clinodactyly of the 5th finger Patent ductus arteriosus Short toe Syndactyly Abnormality of the skeletal system Downslanted palpebral fissures Anteverted nares Vomiting Splenomegaly Fever Hepatomegaly Agenesis of corpus callosum Abnormal cardiac septum morphology Postnatal growth retardation Thyroiditis Short digit Underdeveloped nasal alae Cardiac arrest Nephrotic syndrome Eczema Autoimmunity Hypothyroidism Finger clinodactyly Intrauterine growth retardation Abnormal heart morphology Papule Talipes equinovarus Hypertelorism Coarctation of aorta Severe combined immunodeficiency Combined immunodeficiency Patellar subluxation Cryptorchidism Humoral immunodeficiency Quadricuspid aortic valve Noncompaction cardiomyopathy Prominent eyelashes Bowing of the legs Irregular femoral epiphysis Aplasia of the pectoralis major muscle Epistaxis Mesoaxial polydactyly Atrial fibrillation Narrow nose Pulmonary edema Partial duplication of thumb phalanx Low-set ears Flexion contracture Triphalangeal thumb Atrioventricular block High palate Irregular vertebral endplates Short thumb Hip contracture Wide nasal bridge Abnormal vertebral morphology Long palpebral fissure Bradycardia Aortic valve stenosis Hypoplasia of the ulna Absent thumb Biconvex vertebral bodies Heart block Atrioventricular canal defect Limited elbow extension Short humerus Polydactyly Petechiae Hypoplastic left heart Abnormality of cardiovascular system morphology Thoracic scoliosis Right bundle branch block Bundle branch block Menorrhagia Short clavicles Bruising susceptibility Truncus arteriosus Abnormality of the carpal bones Asthma Down-sloping shoulders Aortic regurgitation Frontal bossing Secundum atrial septal defect Ecchymosis Complete atrioventricular canal defect Anomalous pulmonary venous return Gastrointestinal hemorrhage Abnormality of the cardiovascular system Total anomalous pulmonary venous return Mitral valve prolapse Hematemesis Nausea Small thenar eminence Cranial nerve paralysis Short neck Ventricular hypertrophy Megalocornea Focal impaired awareness seizure Intracranial hemorrhage Genu varum Adducted thumb Hemangioma Spina bifida Short phalanx of finger Left ventricular hypertrophy Broad thumb Cerebellar vermis hypoplasia Tetralogy of Fallot Carpal synostosis Focal-onset seizure Intestinal malrotation Severe global developmental delay Hip dislocation Leukemia Intellectual disability, severe Ptosis Sensorineural hearing impairment Hearing impairment Premature separation of centromeric heterochromatin Midface capillary hemangioma Nevus flammeus Patellar dislocation Frontal encephalocele Cervical ribs Axial malrotation of the kidney Shoulder muscle hypoplasia Edema of the dorsum of feet Amegakaryocytic thrombocytopenia Nevus flammeus of the forehead Aplasia/hypoplasia of the humerus Edema of the dorsum of hands Renal malrotation Meckel diverticulum Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Generalized tonic-clonic seizures with focal onset Chromosome breakage Lateral clavicle hook Carpal bone hypoplasia Fibular aplasia Pancreatic cysts Cavum septum pellucidum Aplasia of the uterus Fused cervical vertebrae Seborrheic dermatitis Patellar aplasia Delayed CNS myelination Aplastic anemia Duodenal atresia Enlarged labia minora Absent earlobe Hydrocephalus Renal agenesis Abnormality of the metacarpal bones Spondyloepiphyseal dysplasia Opacification of the corneal stroma Knee flexion contracture Elbow flexion contracture Cafe-au-lait spot Recurrent urinary tract infections Abnormality of the genital system Encephalocele Oligohydramnios Convex nasal ridge Renal cyst Polycystic kidney dysplasia Cleft upper lip Talipes Prominent nasal bridge Short philtrum Coloboma Paralysis Retrognathia Polyhydramnios Proptosis Posteriorly rotated ears Hypospadias Melanoma Clitoral hypertrophy Talipes equinovalgus Bicornuate uterus Triangular mouth Bilateral renal agenesis Accessory spleen Craniofacial dysostosis Narrow naris Wrist flexion contracture Hydranencephaly Hand oligodactyly Biliary tract abnormality Long penis Subvalvular aortic stenosis Eyelid coloboma Radial deviation of finger Bilateral cleft lip and palate Low hanging columella Bilateral cleft lip Upper limb undergrowth Shallow orbits Severe intrauterine growth retardation Ankle contracture Fibular hypoplasia Cystic hygroma Short femoral neck Anonychia Bilateral talipes equinovarus Partial agenesis of the corpus callosum Encephalitis Pleural effusion Opisthotonus Cervical instability Narrow greater sacrosciatic notches Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Hepatic cysts Dislocated radial head Metaphyseal dysplasia Disproportionate short stature Neurodevelopmental delay Epiphyseal dysplasia Muscle weakness Lymphopenia Progressive microcephaly Generalized-onset seizure Limb undergrowth Prominent nose Full cheeks Broad nasal tip Anal atresia Platyspondyly Muscular hypotonia of the trunk Severe platyspondyly Myopia Coarse facial features Lactic acidosis Recurrent upper respiratory tract infections Easy fatigability Ragged-red muscle fibers Corneal dystrophy Exercise intolerance Hemiparesis Esotropia Aciduria Increased serum lactate Generalized muscle weakness Congenital cataract Respiratory insufficiency Stroke Feeding difficulties in infancy Mental deterioration Hypertrophic cardiomyopathy Osteopenia Acidosis Dyspnea Headache Myopathy Cardiomyopathy Abnormality of the nervous system Kyphosis Premature ovarian insufficiency Autoimmune hemolytic anemia Pruritus Severe short stature Secretory diarrhea Intractable diarrhea Pancreatic hypoplasia Ileus Immune dysregulation Villous atrophy Ketoacidosis Abnormality of the thyroid gland Dry skin Malnutrition Abnormality of the coagulation cascade Hyperglycemia Nephritis Abnormal intestine morphology Type I diabetes mellitus Hepatitis Hemolytic anemia Arthritis Diabetes mellitus Hypotrichosis Lymphoma Hyperreflexia Recurrent viral infections Severe B lymphocytopenia Desquamation of skin soon after birth Abnormal lymphocyte morphology Generalized lymphadenopathy Protracted diarrhea Recurrent fungal infections B lymphocytopenia Metaphyseal chondrodysplasia Cellular immunodeficiency Hypoplasia of the thymus Hypoproteinemia Abnormality of the metaphysis Hashimoto thyroiditis Aplasia/Hypoplasia of the eyebrow Leukocytosis Scaling skin Disproportionate short-limb short stature Shock Recurrent bacterial infections Increased body weight Chronic diarrhea Thickened skin Abnormal electroretinogram Abnormality of mitochondrial metabolism Narrow palpebral fissure Osteolysis Abnormal toenail morphology Hearing abnormality Irregular hyperpigmentation Abnormality of immune system physiology Telangiectasia of the skin Hemiplegia/hemiparesis Abnormality of dental morphology Hypopigmented skin patches Spina bifida occulta Abnormality of the fingernails Hypoplastic fingernail Abnormality of dental enamel Abnormality of the nail Abnormality of the hair Skin ulcer Oral cleft Attention deficit hyperactivity disorder Camptodactyly of finger Umbilical hernia Cerebral cortical atrophy Hyperhidrosis Dystrophic toenail Verrucae Cognitive impairment Thin upper lip vermilion Recurrent pneumonia Meningitis Sinusitis Recurrent otitis media Cardiomegaly Short metacarpal Premature birth Retinal dystrophy Downturned corners of mouth Tachycardia Hypogonadism Cerebral ischemia Long philtrum Intellectual disability, mild Abnormal facial shape Broad nail Abnormal hand morphology Ridged fingernail Abnormal chorioretinal morphology Absent hand Asymmetric growth Deviation of finger Gait disturbance Atrophic, patchy alopecia Hypoplasia of the brainstem Exercise-induced lactic acidemia Malabsorption Nail dystrophy Scarring Pallor Visual loss Abnormality of the dentition Optic atrophy Neoplasm Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Infantile axial hypotonia Tetraplegia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Skeletal myopathy Organic aciduria Right ventricular hypertrophy Meningocele Mitochondrial myopathy Hypopigmentation of the skin Nevus Hyperpigmented streaks Hypoplasia of the fovea Nail pits Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Breast aplasia Breast hypoplasia Generalized osteosclerosis Thick nail Ridged nail Conical tooth Anodontia Abnormality of the vasculature Ectodermal dysplasia Pustule Hypoplastic nipples Hyperostosis Coarse hair Hemivertebrae Increased bone mineral density Hyperpigmentation of the skin Lymphedema Fine hair Nail dysplasia Cow milk allergy



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