High palate, and Neutropenia

Diseases related with High palate and Neutropenia

In the following list you will find some of the most common rare diseases related to High palate and Neutropenia that can help you solving undiagnosed cases.

Top matches:

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Other less relevant matches:

Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018).For an overview of congenital disorders of glycosylation (CDG), see CDG1A (OMIM ) and CDG2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION; CDGF

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

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Medium match COHEN SYNDROME

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about COHEN SYNDROME

Medium match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Neutropenia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Neutropenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Anemia

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Feeding difficulties Sensorineural hearing impairment Hypertelorism Recurrent respiratory infections Intrauterine growth retardation Recurrent infections Thrombocytopenia Muscular hypotonia Epicanthus Atrial septal defect Neurodevelopmental delay Sepsis Hearing impairment Respiratory tract infection Micrognathia Diarrhea Abnormal facial shape Leukopenia Recurrent bacterial infections Feeding difficulties in infancy Lymphopenia Low-set ears Bronchiectasis Abnormal heart morphology Acidosis Pneumonia Cleft palate Kyphosis Immunodeficiency

Rare Symptoms - Less than 30% cases

Hypothyroidism Glaucoma Cleft upper lip Abnormality of the skeletal system Recurrent skin infections Dehydration Hepatitis Osteopenia Wide nasal bridge Flexion contracture Bronchitis Joint stiffness Triangular face Congenital neutropenia Retrognathia Asthma Renal tubular dysfunction Hepatosplenomegaly Respiratory distress Hepatomegaly Cryptorchidism Muscle weakness Failure to thrive in infancy Combined immunodeficiency Hypoplasia of the thymus Erythroid hypoplasia Open mouth Hypoglycemia Strabismus Downslanted palpebral fissures Ventricular septal defect Brachydactyly Scoliosis Congestive heart failure Congenital glaucoma Cleft lip Narrow forehead Severe global developmental delay Hip dislocation Decreased antibody level in blood Tapered finger Optic atrophy Skin rash Obesity Nystagmus Macrocytic anemia Myopia Genu valgum Spasticity Pancytopenia Motor delay Depressed nasal bridge Steatorrhea Exocrine pancreatic insufficiency Lethargy Severe failure to thrive Fatigue High, narrow palate Hypertonia Ataxia Arthritis Abnormality of retinal pigmentation Centrally nucleated skeletal muscle fibers Decreased liver function Severe sensorineural hearing impairment Cubitus valgus Progressive microcephaly IgG deficiency Decreased body weight Hypopigmentation of hair Left ventricular hypertrophy Abnormality of the hip bone Weak cry Abnormal eyelash morphology Hypoplasia of the zygomatic bone Aspiration Optic neuropathy Reduced number of teeth Adducted thumb Gingival overgrowth Preauricular skin tag Low anterior hairline Albinism Congenital sensorineural hearing impairment Poor suck Infantile muscular hypotonia Macular atrophy Heterotopia Renal tubular acidosis Aplasia/Hypoplasia of the corpus callosum Sandal gap Increased body weight Abnormality of immune system physiology Abnormal eyelid morphology Agenesis of corpus callosum Aplasia/Hypoplasia of the earlobes Hypertrophic cardiomyopathy Pulmonary hypoplasia Polymicrogyria Congenital cataract Dilated cardiomyopathy Cardiomyopathy Myopathy Postnatal growth retardation Muscular hypotonia of the trunk Cerebellar atrophy Thick vermilion border EEG abnormality Coarse facial features Aspiration pneumonia Cerebral cortical atrophy Long philtrum Dilatation Rod-cone dystrophy Hypospadias Wide nose Sleep disturbance Progressive neurologic deterioration Hypotelorism Cerebellar vermis hypoplasia Thick hair Macrodontia Cerebellar hypoplasia Chorioretinal dystrophy Narrow palm Aplasia/Hypoplasia of the tongue Ventricular hypertrophy Cat cry Anteverted nares Delayed myelination Slender toe Cataract Ptosis Hypopigmentation of the skin Peripheral neuropathy Hyperreflexia Ventriculomegaly Respiratory failure Aplasia/Hypoplasia of the macula Depressed nasal tip Spondyloepiphyseal dysplasia Ketoacidosis Irregular vertebral endplates Overweight Insulin-resistant diabetes mellitus Hypoplasia of the odontoid process Hyperuricemia Glycosuria Short thorax Abnormality of neuronal migration Preauricular pit Barrel-shaped chest Hyperglycemia Epiphyseal dysplasia Wormian bones Type I diabetes mellitus Coxa valga Abnormality of epiphysis morphology Abnormality of the metaphysis Blue sclerae Microdontia Recurrent fractures Cone-shaped epiphyses of the phalanges of the hand Acute hepatic failure Nephropathy Atlantoaxial dislocation Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Chronic hepatic failure Decreased hip abduction Multiple epiphyseal dysplasia Hip subluxation Pancreatic hypoplasia Central hypothyroidism Flattened epiphysis Narrow iliac wings Thoracolumbar kyphosis Carpal bone hypoplasia Enlarged thorax Small epiphyses Thin bony cortex Coma Hepatic failure Ocular albinism Abnormality of the mandible Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Pontocerebellar atrophy Cutaneous anergy Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Cellular immunodeficiency Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Fair hair Abnormal immunoglobulin level Decreased T cell activation Thin vermilion border Upslanted palpebral fissure Hypermetropia Platyspondyly Irritability Hyperlordosis Elevated hepatic transaminase Jaundice High forehead Weight loss Brachycephaly Diabetes mellitus Osteoporosis Ureteral atresia Severe short stature Delayed skeletal maturation Renal insufficiency Gait disturbance Pain Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Long eyelashes Vertebral fusion Decreased fetal movement B lymphocytopenia Limb undergrowth Hirsutism Broad forehead Kyphoscoliosis Polyhydramnios Short nose Recurrent enteroviral infections Crohn's disease Verrucae Buphthalmos Agammaglobulinemia External ear malformation Recurrent sinusitis Cellulitis Osteomyelitis Chronic otitis media Encephalitis Conjunctivitis Recurrent pneumonia Nephrocalcinosis Cognitive impairment Sinusitis Inflammatory abnormality of the skin Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Glomerulonephritis Narrow palpebral fissure Vasculitis Eczema Dysarthria Lymphoma Sensory impairment Hemolytic anemia Erythema Abnormality of the nervous system Conductive hearing impairment Gastroesophageal reflux Myoclonus Hyporeflexia Meningitis Chronic diarrhea Hypertension Juvenile rheumatoid arthritis Megaloblastic bone marrow Decreased methylcobalamin Hyperhomocystinemia Glossitis Methylmalonic acidemia Homocystinuria Methylmalonic aciduria Stomatitis Megaloblastic anemia Decreased methionine synthase activity Rheumatoid arthritis Incoordination Psychosis Abnormality of the skin Aciduria Small for gestational age Microtia Developmental regression Thin upper lip vermilion Decreased adenosylcobalamin Cystathioninuria Recurrent otitis media Mild global developmental delay Malabsorption Cough Fever Hyperechogenic pancreas Laryngeal cleft Subglottic stenosis Normocytic anemia Prolonged prothrombin time Prolonged partial thromboplastin time Metaphyseal dysplasia Cystathioninemia Mild short stature Metaphyseal irregularity Metaphyseal widening Laryngomalacia Genu varum Severe muscular hypotonia Rhizomelia High myopia Constipation Cortical myoclonus Respiratory insufficiency Mitral valve prolapse 11 pairs of ribs Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Reticulocytopenia Anemia of inadequate production Increased mean corpuscular volume Aplastic anemia Osteosarcoma Branchial cyst Hypoplastic ilia Thrombocytosis Acute myeloid leukemia Myeloid leukemia Absent thumb Colon cancer Delayed cranial suture closure Triphalangeal thumb Myelodysplasia Partial duplication of thumb phalanx Persistence of hemoglobin F Hypoplasia of the radius Prominent nasal bridge Hypoplasia of the maxilla Iris coloboma Thick eyebrow Abnormality of skin pigmentation Arachnodactyly Joint hyperflexibility Delayed puberty Neurological speech impairment Finger syndactyly Short philtrum Hypoplastic anemia Clinodactyly of the 5th finger Pectus excavatum Microphthalmia Abnormality of the dentition Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Abnormality of the hand Abnormal dermatoglyphics Splenomegaly Pulmonary arterial hypertension Iron deficiency anemia Long fingers Unilateral renal agenesis Tented upper lip vermilion Cutis laxa Plagiocephaly Broad thumb Mitral regurgitation Sparse scalp hair Renal agenesis Premature loss of teeth Single transverse palmar crease Pulmonic stenosis Pectus carinatum Joint laxity Hydronephrosis Patent ductus arteriosus Clinodactyly Hernia Midface retrusion Abnormality of lipid metabolism Varicose veins Bone marrow hypocellularity Leukemia Hydrops fetalis Short thumb Depressed nasal ridge Coarctation of aorta Webbed neck Premature birth Nausea Nausea and vomiting Narrow chest Abnormal cardiac septum morphology Prominent superficial veins Pallor Vomiting Edema Short neck Cor triatriatum Neonatal sepsis Intermittent thrombocytopenia Monocytosis Giant platelets Ivory epiphyses of the toes


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