Global developmental delay, and Eosinophilia

Diseases related with Global developmental delay and Eosinophilia

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

Top matches:

Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

Linear and whorled hypermelanosis (LWNH) is a benign skin condition characterized by onset in infancy of hyperpigmented regions composed of small light brown spots that coalesce with age and follow the lines of Blaschko on the trunk and limbs. The soles, palms, face, and mucous membranes are spared. The lesions are asymptomatic and progress with age; affected individuals have no accompanying extradermal features. There is no previous history of inflammation on affected areas (summary by Kalter et al., 1988).

BECKER NEVUS SYNDROME Is also known as pigmentary hairy epidermal nevus

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Kyphosis
  • Pectus excavatum
  • Autism


SOURCES: OMIM ORPHANET MENDELIAN

More info about BECKER NEVUS SYNDROME

Other less relevant matches:

IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

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

Medium 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

Top 5 symptoms//phenotypes associated to Global developmental delay and Eosinophilia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Sepsis Hepatosplenomegaly Severe combined immunodeficiency Prominent nose Inflammatory abnormality of the skin Failure to thrive Lymphopenia Leukopenia Pneumonia Hepatomegaly Splenomegaly Short stature Hypertelorism Combined immunodeficiency Motor delay Abnormality of the nervous system Spasticity Ataxia Neutropenia Meningitis

Rare Symptoms - Less than 30% cases

Cellular immunodeficiency Hypertonia Diarrhea Vomiting Hyperreflexia Leukemia Anemia Recurrent respiratory infections Tetraplegia Umbilical hernia Agenesis of corpus callosum Abnormal facial shape Supernumerary ribs Supernumerary nipple Peripheral neuropathy Decreased antibody level in blood Irritability Encephalitis Verrucae Recurrent pneumonia Sinusitis Recurrent otitis media Platyspondyly Brachydactyly Single transverse palmar crease Purpura Respiratory tract infection Lymphadenopathy Skin rash Recurrent upper respiratory tract infections Aspiration Chronic diarrhea Pancytopenia Anorexia Spina bifida occulta Thrombocytopenia Short palpebral fissure Abnormality of the dentition Increased antibody level in blood Myopathic facies Attention deficit hyperactivity disorder Scoliosis Recurrent bacterial infections Thin upper lip vermilion Hypodontia Long philtrum Microcephaly Pectus excavatum Narrow palpebral fissure Granulocytopenia Narrow mouth Asthma Kyphosis Generalized-onset seizure Narrow nose Coxa valga Limb undergrowth Full cheeks Broad nasal tip Epiphyseal dysplasia Erythroderma Opisthotonus Progressive microcephaly Downturned corners of mouth Neurodevelopmental delay Long palpebral fissure Cognitive impairment Cataract Strabismus Severe platyspondyly Partial agenesis of the corpus callosum Cervical instability Narrow greater sacrosciatic notches Disproportionate short stature Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Hepatic cysts Hip contracture Dislocated radial head Metaphyseal dysplasia Irregular vertebral endplates Craniosynostosis Anal atresia Pulmonary insufficiency Aplasia of the thymus Anterior rib cupping Recurrent fungal infections Diffuse mesangial sclerosis B lymphocytopenia Decrease in T cell count Humoral immunodeficiency Recurrent opportunistic infections Increased IgE level Prominent eyelashes Noncompaction cardiomyopathy IgM deficiency Allergy Irregular femoral epiphysis Recurrent viral infections Cortical sclerosis Immunoglobulin IgG2 deficiency Pulmonary edema Nystagmus Gait disturbance Muscular hypotonia of the trunk Coarse facial features Skeletal dysplasia Kyphoscoliosis Short digit Depressed nasal bridge Hearing impairment Absence of lymph node germinal center Absent specific antibody response Reduced red cell adenosine deaminase activity Anti-thyroid peroxidase antibody positivity Lack of T cell function Severe B lymphocytopenia Abnormality of humoral immunity Absent tonsils Visual impairment Camptodactyly of finger Congestive heart failure Ridged fingernail Uveitis Underdeveloped nasal alae Hearing abnormality Abnormal toenail morphology Dystrophic toenail Hypoplastic fingernail Cerebral ischemia Short metacarpal Deviation of finger Asymmetric growth Premature birth Retinal hemorrhage Absent hand Abnormal chorioretinal morphology Abnormal hand morphology Abnormality of immune system physiology Edema Postnatal growth retardation Hypogonadism Retinal dystrophy Clinodactyly of the 5th finger Clinodactyly Intellectual disability, mild Anteverted nares Broad nail Ventricular septal defect Fatigue Downslanted palpebral fissures Intrauterine growth retardation Growth delay Retinal vascular proliferation Irregular hyperpigmentation Telangiectasia of the skin Microphthalmia Corneal opacity Delayed eruption of teeth Retinal detachment Pleural effusion Abnormality of skin pigmentation Oral cleft Spondyloepiphyseal dysplasia Finger syndactyly Pulmonary arterial hypertension Tachycardia Erythema Hyperkeratosis Cerebral cortical atrophy Hyperhidrosis Alopecia Abnormal blistering of the skin Blue sclerae Hemiplegia/hemiparesis Abnormality of the fingernails Keratitis Abnormality of dental morphology Hypopigmented skin patches Eczema Osteolysis Cardiomegaly Abnormality of dental enamel Skin ulcer Short toe Finger clinodactyly Abnormality of the nail Recurrent lower respiratory tract infections Tachypnea Abnormality of the hair B-cell lymphoma Myeloid leukemia Autoimmune thrombocytopenia Narrow forehead Reticular hyperpigmentation Upper limb asymmetry Hypoplastic labia minora Aplasia/Hypoplasia of the breasts Abnormality of the scrotum Hyperpigmented streaks Micrognathia Absent speech Hernia Posteriorly rotated ears Upslanted palpebral fissure Short philtrum Severe global developmental delay Hirsutism Spastic tetraplegia Gastritis Tremor Malabsorption Nausea and vomiting Pallor Feeding difficulties in infancy Gastroesophageal reflux Behavioral abnormality Skeletal muscle atrophy Clumsiness Cerebellar atrophy Pulmonary artery stenosis Natal tooth Psoriasiform dermatitis Wormian bones Otitis media Shoulder girdle muscle atrophy Rib fusion Dyskinesia Feeding difficulties Anxiety Hyperactivity Bone marrow hypocellularity Myopia Epicanthus Delayed speech and language development Myelodysplasia Unsteady gait Agranulocytosis Tonsillitis Monocytosis Congenital neutropenia Acute lymphoblastic leukemia Thrombocytosis Hypermetropia Microdontia Abnormality of tibia morphology Nevus Lower limb asymmetry Woolly hair Hamartoma Lipoatrophy Hypermelanotic macule Acne Hypopigmentation of the skin Hypsarrhythmia Micromelia Pectus carinatum Autism Thin eyebrow Delayed ability to walk Oligodontia Abnormality of movement Focal-onset seizure IgA deficiency Generalized edema Increased LDL cholesterol concentration Hemophagocytosis Histiocytosis Acute myeloid leukemia Prolonged prothrombin time Decreased HDL cholesterol concentration Prolonged partial thromboplastin time Increased total bilirubin Hypoproteinemia Acute leukemia Increased serum ferritin Increased CSF protein Pulmonary infiltrates Episodic fever Partial albinism T-cell lymphoma Albinism Abnormality of the skeletal system Autoimmune hemolytic anemia Malnutrition Abnormality of pelvic girdle bone morphology Leukoencephalopathy Hepatitis Autoimmunity Hypertension Increased VLDL cholesterol concentration Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis Polyneuritis CSF pleocytosis Hypofibrinogenemia Abnormality of the coagulation cascade Hyponatremia Cerebral calcification Proximal amyotrophy Glossitis Folate deficiency Oral ulcer Normocytic anemia Cheilitis Megaloblastic anemia Drowsiness Neoplasm Macrocytic anemia Basal ganglia calcification Abnormality of the immune system Athetosis Increased body weight Recurrent urinary tract infections Folate-responsive megaloblastic anemia Fever Hemiplegia Gliosis Hypoalbuminemia Increased intracranial pressure Hyperbilirubinemia Hypertriglyceridemia Peripheral demyelination Lymphoma Coma Encephalopathy Hemolytic anemia Hepatic failure Confusion Abnormality of the liver Elevated hepatic transaminase Jaundice Biconvex vertebral bodies


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Short nose, related diseases and genetic alterations Delayed speech and language development and Paresthesia, related diseases and genetic alterations Brachydactyly and Falls, related diseases and genetic alterations Edema and Retinal detachment, related diseases and genetic alterations Hypertension and Paresthesia, related diseases and genetic alterations Short stature and Microcephaly, related diseases and genetic alterations