High palate, and Lymphopenia

Diseases related with High palate and Lymphopenia

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

Top matches:

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

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

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Other less relevant matches:

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

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

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Medium match COHEN SYNDROME; COH1

Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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

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

Symptoms // Phenotype % cases
Failure to thrive Very Common - Between 80% and 100% cases
Neutropenia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Scoliosis Microcephaly Anemia Immunodeficiency Growth delay Thrombocytopenia Seizures Leukopenia Ataxia Sensorineural hearing impairment Respiratory tract infection Abnormal facial shape Lymphoma Recurrent skin infections Recurrent bacterial infections Abnormality of the skeletal system Micrognathia Epicanthus Pneumonia Recurrent respiratory infections Respiratory distress Low-set ears Cataract Cleft palate Muscle weakness Atrial septal defect Kyphosis Nystagmus Dilatation Muscular hypotonia Joint hypermobility Asthma Ptosis Myopia Feeding difficulties Strabismus Frontal bossing Postnatal growth retardation Feeding difficulties in infancy Motor delay Hypothyroidism Cryptorchidism Decreased antibody level in blood Bronchiectasis Diarrhea Arthritis Skin rash Bronchitis Sepsis Small for gestational age

Rare Symptoms - Less than 30% cases

Exotropia Hyperreflexia Abnormality of skin pigmentation Abnormality of the uterus Depressed nasal bridge Myopathy Optic atrophy Ventriculomegaly Cardiomyopathy Congestive heart failure Furrowed tongue Hypospadias Visual impairment Arteriovenous malformation Astigmatism Congenital neutropenia Finger syndactyly Joint laxity Microphthalmia Clinodactyly of the 5th finger Diabetes mellitus Pes planus Hernia Patent ductus arteriosus Single transverse palmar crease Thin upper lip vermilion Tapered finger Renal agenesis Broad thumb Failure to thrive in infancy Hypoplasia of the thymus Acidosis Rod-cone dystrophy Hypertrophic cardiomyopathy Telangiectasia Pectus excavatum Macrocephaly Incoordination Downslanted palpebral fissures Hepatomegaly Laryngomalacia Headache Hypopigmented skin patches Rheumatoid arthritis Neoplasm Cranial nerve paralysis Carcinoma Intellectual disability, moderate Abnormality of the kidney Leukemia Hypoplasia of the maxilla Cafe-au-lait spot Intracranial hemorrhage Decreased proportion of CD4-positive T cells Aciduria Pancytopenia High myopia Severe global developmental delay Polymicrogyria Thick vermilion border High, narrow palate Hypopigmentation of the skin Narrow forehead Acute myeloid leukemia Granulocytopenia Open mouth Multiple cafe-au-lait spots Abnormality of retinal pigmentation Progressive microcephaly Neurodevelopmental delay Abnormal heart morphology Severe failure to thrive Cellular immunodeficiency Hydrocephalus Cerebellar hypoplasia Intrauterine growth retardation Cognitive impairment Recurrent fungal infections Chronic diarrhea Gastroesophageal reflux Recurrent sinusitis Sinusitis Chronic mucocutaneous candidiasis Brachydactyly Squamous cell carcinoma Wide nasal bridge Otitis media Eczema Chronic otitis media Constipation Prominent nose Wide nose B lymphocytopenia Facial asymmetry Cellulitis Verrucae Mandibular prognathia External ear malformation Erythema Coarse facial features Inflammatory abnormality of the skin Atopic dermatitis Combined immunodeficiency Cough Fever Fatigue Posterior subcapsular cataract Macular edema Constriction of peripheral visual field Cubitus valgus Metaphyseal widening Metaphyseal irregularity Radioulnar synostosis Bone spicule pigmentation of the retina Abnormality of the larynx Precocious puberty Deep venous thrombosis Aplasia/Hypoplasia of the earlobes Recurrent aphthous stomatitis Short metatarsal Tapetoretinal degeneration Reduced number of teeth Mild short stature Thick hair Venous thrombosis Genu varum Misalignment of teeth Hiatus hernia Microglossia Decreased adenosylcobalamin Decreased methionine synthase activity Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Cystathioninuria Megaloblastic bone marrow Cystathioninemia Gingivitis Decreased methylcobalamin Vocal cord paralysis Facial hypotonia Weak cry Celiac disease Narrow nasal bridge Severe muscular hypotonia Abnormality of the hip bone Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Hyperhomocystinemia Rhizomelia Tall stature Sandal gap Protruding ear Delayed puberty Synophrys Neurological speech impairment Prolonged prothrombin time Normocytic anemia Prominent nasal bridge Short philtrum Stroke Nyctalopia Retinopathy Wide mouth Paralysis Neonatal hypotonia Joint hyperflexibility Subglottic stenosis Laryngeal cleft Retrognathia Kyphoscoliosis Macrotia Reduced visual acuity Visual loss Obesity Malar flattening Behavioral abnormality Blindness Edema Ventricular septal defect Genu valgum Smooth philtrum Intellectual disability, progressive Convex nasal ridge Low anterior hairline Preauricular skin tag Gingival overgrowth Long eyelashes Macrodontia Steatorrhea Clumsiness Lumbar hyperlordosis Decreased fetal movement Mitral valve prolapse Pigmentary retinopathy Progressive visual loss Metaphyseal dysplasia Arachnodactyly Growth hormone deficiency Short metacarpal Microcornea Highly arched eyebrow Retinal detachment Small hand Retinal dystrophy Exocrine pancreatic insufficiency Mild global developmental delay Prolonged partial thromboplastin time Iris coloboma Thick eyebrow Retinal degeneration Iris atrophy Abnormality of chromosome stability Bull's eye maculopathy Abnormal carotid artery morphology Absent thumb Decreased fertility in males Hydroureter Ectopic kidney Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Absent testis Compensated hypothyroidism Triphalangeal thumb Almond-shaped palpebral fissure Prolonged G2 phase of cell cycle Abnormality of blood and blood-forming tissues Myelodysplasia Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Hyperinsulinemia Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Pyridoxine-responsive sideroblastic anemia Renal hypoplasia/aplasia Azoospermia Myeloid leukemia Absent radius Abnormality of the preputium Abnormality of the thumb Reticulocytopenia Abnormal aortic morphology Abnormal renal morphology Abnormality of nervous system morphology Abnormal aortic valve morphology Primary hypothyroidism Duodenal stenosis Abnormality of the hypothalamus-pituitary axis Duplicated collecting system Acute monocytic leukemia Abnormality of femur morphology Meckel diverticulum Bicornuate uterus Low-grade fever Aplasia/Hypoplasia of the radius Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Abnormality of the testis Aplastic anemia Abnormality of the upper limb Partial duplication of thumb phalanx B-cell lymphoma Abnormality of the ulna Abnormal eyelid morphology Clubbing of toes Chromosome breakage Hearing abnormality Irregular hyperpigmentation Type I diabetes mellitus Horseshoe kidney Hyperplasia of the maxilla Cat cry Abnormality of the eye Methylmalonic aciduria Umbilical hernia Proptosis Weight loss Upslanted palpebral fissure Hypogonadism Severe short stature Homocystinuria Abnormality of cardiovascular system morphology Renal insufficiency Methylmalonic acidemia Slender toe Hypoplastic philtrum Abnormality of the liver Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum Glossitis High-pitched cry Chorioretinal dysplasia Narrow philtrum Abnormal localization of kidney Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Irritability Abnormal cardiac septum morphology Developmental regression Choanal atresia Bone marrow hypocellularity Hypergonadotropic hypogonadism Microtia Spina bifida Lethargy Abnormal vertebral morphology Insulin resistance Short thumb Recurrent urinary tract infections Abnormality of the skin Psychosis Aganglionic megacolon Abnormality of the genital system Macrocytic anemia Hip dislocation Short palpebral fissure Megaloblastic anemia Oligohydramnios Sloping forehead Tetralogy of Fallot Bruising susceptibility Vertigo Juvenile rheumatoid arthritis Anal atresia Stomatitis Abnormality of the foot Toe syndactyly Dolichocephaly Narrow palm Melanoma Lobular carcinoma in situ Long fingers Spasticity Cor triatriatum Neonatal sepsis Intermittent thrombocytopenia Monocytosis Erythroid hypoplasia Giant platelets Prominent superficial veins Varicose veins Premature loss of teeth Abnormality of lipid metabolism Iron deficiency anemia Unilateral renal agenesis Anteverted nares Tented upper lip vermilion Cutis laxa Plagiocephaly Mitral regurgitation Sparse scalp hair Pulmonary arterial hypertension Pulmonic stenosis Pectus carinatum Hydronephrosis Hepatosplenomegaly Clinodactyly Midface retrusion Splenomegaly Peripheral neuropathy Cerebellar atrophy Hypertension Delayed myelination Adducted thumb Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Increased body weight Aspiration Decreased liver function Decreased body weight Left ventricular hypertrophy Heterotopia Progressive neurologic deterioration Cerebellar vermis hypoplasia Ventricular hypertrophy Hypotelorism Triangular face Hypertonia Sleep disturbance Pulmonary hypoplasia Cleft upper lip Congenital cataract Dilated cardiomyopathy Joint stiffness Cleft lip Muscular hypotonia of the trunk EEG abnormality Respiratory failure Cerebral cortical atrophy Agenesis of corpus callosum Long philtrum Respiratory insufficiency Impaired neutrophil chemotaxis Congenital sensorineural hearing impairment Myoclonus Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Glomerulonephritis Narrow palpebral fissure Vasculitis Sensory impairment Hemolytic anemia Abnormality of the nervous system Conductive hearing impairment Hyporeflexia Abnormality of the dentition Dysarthria Recurrent enteroviral infections Crohn's disease Agammaglobulinemia Osteomyelitis Encephalitis Conjunctivitis Recurrent pneumonia Meningitis Recurrent otitis media Hepatitis Dehydration Malabsorption Dysphagia Prominent forehead Squamous cell carcinoma of the vulva Red hair Anal canal squamous carcinoma Lung abscess Opportunistic infection Recurrent candida infections Recurrent Staphylococcus aureus infections Severe viral infections Onychomycosis Recurrent bacterial skin infections Eczematoid dermatitis T-cell lymphoma Fractures of the long bones Persistence of primary teeth Decrease in T cell count Increased IgE level Osteoporosis Recurrent sinopulmonary infections Hemihypertrophy Recurrent bronchitis Urticaria Eosinophilia Hemivertebrae Skin ulcer Thick lower lip vermilion Recurrent fractures Pruritus Craniosynostosis Deeply set eye Osteopenia Poor suck Albinism Multiple trichilemmomata Abnormality of the vasculature Cavernous hemangioma Long penis Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Lipoma Papilloma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Enlarged polycystic ovaries Hamartomatous polyposis Hand polydactyly Progressive macrocephaly Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Colorectal polyposis Fibroma Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Neoplasm of the central nervous system Generalized hyperkeratosis Melanocytic nevus Dysdiadochokinesis Macular atrophy Recurrent viral infections Abnormal immunoglobulin level 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 Abnormality of the mandible Pontocerebellar atrophy Abnormal posturing Hypopigmentation of the fundus Abnormal cortical gyration Decreased T cell activation Hypoplasia of the pons Fair hair Renal tubular dysfunction Ocular albinism Depressed nasal tip Aspiration pneumonia IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Cutaneous anergy Aplasia/Hypoplasia of the macula Palmoplantar hyperkeratosis Nausea and vomiting Goiter Breast carcinoma Increased intracranial pressure Hemangioma Drooling Neoplasm of the skin Gynecomastia Subcutaneous nodule Intention tremor Overgrowth Macroglossia Abnormal cerebellum morphology Palmoplantar keratoderma Papule Ureteral atresia Proximal muscle weakness Narrow mouth Autism Intellectual disability, mild Tremor Skeletal muscle atrophy Delayed speech and language development Pain Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Hyperechogenic pancreas


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