Immunodeficiency, and Umbilical hernia

Diseases related with Immunodeficiency and Umbilical hernia

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Umbilical hernia that can help you solving undiagnosed cases.

Top matches:

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

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

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Other less relevant matches:

High match MONOSOMY 22Q13

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Umbilical hernia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Umbilical hernia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Inguinal hernia Behavioral abnormality Muscular hypotonia Microcephaly Renal dysplasia Bulbous nose Obesity Delayed speech and language development Strabismus Malar flattening Epicanthus Short stature Scoliosis Short neck Arthritis Atrial septal defect Vesicoureteral reflux Psoriasiform dermatitis Macrocephaly Anxiety Patent ductus arteriosus Macrotia Ventricular septal defect Cleft palate Impaired T cell function Specific learning disability Hydronephrosis Ptosis Ventriculomegaly Cognitive impairment Wide nasal bridge Hydrocephalus Generalized hypotonia Micrognathia Abnormality of the dentition Hernia Agenesis of corpus callosum Optic atrophy Depressed nasal bridge Narrow mouth Purpura Hypocalcemia Spina bifida Mental deterioration Thrombocytopenia Depressivity Intellectual disability, mild Seborrheic dermatitis Tetralogy of Fallot Hypermetropia Nasal speech Hypothyroidism High palate Absent speech Feeding difficulties Multicystic kidney dysplasia Hyperactivity Gastroesophageal reflux Posteriorly rotated ears Schizophrenia Cholelithiasis Respiratory tract infection Dental malocclusion Truncus arteriosus Unilateral renal agenesis Meningocele Hypohidrosis Abnormality of the pinna Hypoparathyroidism Hypoplasia of the corpus callosum Bipolar affective disorder Posterior embryotoxon Failure to thrive Cryptorchidism Autoimmunity Hypospadias Thick eyebrow Anemia Intellectual disability, severe Cataract Microphthalmia Short philtrum Low-set ears Acne Abnormality of cardiovascular system morphology Recurrent respiratory infections

Rare Symptoms - Less than 30% cases

Splenomegaly Talipes equinovarus Abnormality of the hand Abnormality of dental enamel Recurrent bacterial infections Dementia Aganglionic megacolon Myopia Prominent supraorbital ridges Polycystic kidney dysplasia Heat intolerance Retinal vascular tortuosity Growth delay Nystagmus Flexion contracture Intrauterine growth retardation Choanal atresia Frontal bossing Delayed skeletal maturation Patellar dislocation Abnormality of the kidney Bowel incontinence Corneal opacity Chronic otitis media Astigmatism Submucous cleft hard palate Duodenal stenosis Abnormal eyelid morphology Delusions Rheumatoid arthritis Sacral meningocele Right aortic arch with mirror image branching Inflammation of the large intestine Autoimmune hemolytic anemia Autoimmune thrombocytopenia Vitiligo Arteria lusoria Aplasia of the thymus Bicuspid aortic valve Myelomeningocele Conotruncal defect Juvenile rheumatoid arthritis Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Platybasia Right aortic arch Arnold-Chiari malformation Hallucinations Hypoplasia of the thymus Anal atresia Tetany Amblyopia Fever Cerebellar atrophy Abnormal heart morphology Retrognathia Conductive hearing impairment Blepharophimosis Attention deficit hyperactivity disorder Dysmetria Telecanthus Hemolytic anemia Bifid uvula Chorea Renal agenesis Amenorrhea Peripheral demyelination Psychosis Low posterior hairline Primary amenorrhea Increased intracranial pressure Kyphosis Sleep disturbance Lymphedema Recurrent pyelonephritis Dolichocephaly Arachnoid cyst Diarrhea Nausea and vomiting Pneumonia Long philtrum Aggressive behavior Bruxism Autism Pointed chin Dental crowding Constipation Cerebellar cortical atrophy Long eyelashes Neurodegeneration Macroglossia Hair-pulling Full cheeks Decreased antibody level in blood Midface retrusion Bronchitis High, narrow palate Otitis media Short palpebral fissure Recurrent skin infections Pain Upslanted palpebral fissure Large hands Osteopenia Clinodactyly of the 5th finger Motor delay Deeply set eye Tall stature Hypoplastic toenails Gait disturbance Neonatal hypotonia Lymphopenia Sacral dimple Impaired pain sensation Abnormality of the skeletal system Myopathic facies Palpebral edema Accelerated skeletal maturation Autistic behavior Combined immunodeficiency Abnormality of the tonsils Spondylolysis Microtia Tricuspid atresia Femoral hernia Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Anterior segment developmental abnormality Generalized tonic-clonic seizures Sclerocornea Exotropia Broad thumb Coarctation of aorta Iris coloboma Polymicrogyria Craniosynostosis Intestinal malrotation Feeding difficulties in infancy Chronic obstructive pulmonary disease Abnormal lung lobation Vascular ring Hypertensive crisis Central nervous system degeneration Turricephaly Multiple renal cysts Abnormality of the skull Varicose veins Atelectasis Abnormality of the uterus Congenital conductive hearing impairment Psychotic episodes Velopharyngeal insufficiency Corneal neovascularization Abnormal thrombocyte morphology Abnormal aortic valve morphology Abnormality of the pharynx Small earlobe Arrhinencephaly Giant platelets Retinal arteriolar tortuosity Perineal fistula Foot polydactyly Prominent nasal bridge Hypopigmented skin patches Carious teeth Joint hyperflexibility Cleft lip Arachnodactyly Long face Asthma Decreased circulating parathyroid hormone level Gastrointestinal hemorrhage Renal hypoplasia Laryngomalacia Abnormal aortic arch morphology Hand polydactyly Hypertonia Neoplasm Abnormality of the thorax Overfolded helix Dysphasia Unilateral primary pulmonary dysgenesis Hyperthyroidism Unilateral lung agenesis Multiple suture craniosynostosis Accommodative esotropia Hyperreflexia Parathyroid hypoplasia Impaired smooth pursuit Abnormality of dental structure Progressive joint destruction Synovial hypertrophy Hydrocele testis Flattened moderately deformed vertebrae Spinocerebellar tract disease in lower limbs Abnormal pulmonary valve morphology Dysostosis multiplex Downslanted palpebral fissures Severe sensorineural hearing impairment Abnormality of joint mobility Glaucoma Aseptic necrosis Limb dystonia Thickened calvaria Abnormality of the sternum Femoral bowing Polyhydramnios Neurodevelopmental delay Open bite Antineutrophil antibody positivity Abnormality of the ilium Flat occiput Cranial hyperostosis Oligosacchariduria Synostosis of joints Increased vertebral height Cerebral dysmyelination Retinal thinning Increased hepatic glycogen content Generalized abnormality of skin Long ear Abnormality of the gingiva Vacuolated lymphocytes Hypoplastic inferior ilia Thoracolumbar kyphosis Decreased pulmonary function Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Bowing of the legs Myalgia Parathyroid agenesis Areflexia Pectus carinatum Hepatosplenomegaly Coarse facial features Skeletal dysplasia Kyphoscoliosis Mandibular prognathia Gait ataxia Prominent forehead Babinski sign Cerebral atrophy Neurological speech impairment Myopathy Skeletal muscle atrophy Dysarthria Hepatomegaly Spasticity Muscle weakness Sensorineural hearing impairment Ataxia Type I truncus arteriosus Broad forehead Abnormality of the cerebral white matter Heart murmur Depressed nasal ridge Widely spaced teeth Narrow palate Low anterior hairline Spastic gait Limb ataxia Gingival overgrowth Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Pancytopenia Abnormality of the foot Type II diabetes mellitus Optic disc pallor Hip dysplasia Delayed myelination Gliosis Progressive cerebellar ataxia Highly arched eyebrow Retinal degeneration Confusion Genu valgum Anorectal anomaly Follicular hyperkeratosis Paranoia Cerebral visual impairment Poor eye contact Weak cry Cellulitis 2-3 toe syndactyly Recurrent upper respiratory tract infections Poor head control Abnormality of the outer ear Short chin Chronic diarrhea Concave nasal ridge Nephrolithiasis Abnormality of the genital system Broad-based gait Hepatitis Renal cyst Thick vermilion border Hepatic failure Unsteady gait Facial asymmetry Abnormality of the periventricular white matter Delayed CNS myelination Irritability Hyperhidrosis Scarring Erythema Developmental regression Camptodactyly Photophobia Hyperkeratosis Polydactyly Cerebral cortical atrophy Severe short stature Periorbital fullness Cerebellar hypoplasia Alopecia Dilatation Respiratory distress Fulminant hepatic failure Tongue thrusting Hyperorality Toenail dysplasia Episodic vomiting Protruding ear Intellectual disability, moderate Hip dislocation Tetraplegia Natal tooth Eosinophilia Leukopenia Wormian bones Inflammatory abnormality of the skin Spastic tetraplegia Narrow forehead Prominent nose Hirsutism Pulmonary artery stenosis Severe global developmental delay Thin lower lip vermilion Lacrimal duct stenosis Underdeveloped supraorbital ridges Ectopic kidney Cone-shaped epiphysis Short metatarsal Short metacarpal Generalized myoclonic seizures Severe combined immunodeficiency Anteverted nares EEG abnormality Agammaglobulinemia Hyporeflexia Headache Vomiting Abnormality of neutrophils Decrease in T cell count Abnormality of chromosome stability Cellular immunodeficiency Chronic bronchitis Communicating hydrocephalus Shawl scrotum Short nose Protruding tongue Malnutrition Recurrent pneumonia Sinusitis Bronchiectasis Sepsis Flat face Malabsorption High forehead Camptodactyly of finger Papule Mood swings Subcortical cerebral atrophy Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Corneal scarring Abnormal pelvis bone morphology Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Thin fingernail Ichthyosis follicularis Absent eyelashes Abnormality of the ear Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Hearing abnormality Anal stenosis Axonal loss Basal ganglia calcification Hypoplasia of the brainstem Unilateral chest hypoplasia Obsessive-compulsive behavior Apathy Dysdiadochokinesis Holoprosencephaly Narrow palpebral fissure Open mouth Underdeveloped nasal alae Pulmonic stenosis Congenital cataract Corneal erosion Abnormal eyelash morphology Nail dystrophy Nail dysplasia Abnormal vertebral morphology Hypoplasia of dental enamel Omphalocele Epidermal acanthosis Abnormality of the ribs Oligohydramnios Eczema Postaxial hand polydactyly Ectodermal dysplasia Abnormality of the nail Brain atrophy Palmoplantar keratoderma Postaxial polydactyly Pulmonary hypoplasia Ichthyosis Dry skin Talipes Hypotrichosis Platyspondyly Abnormality of the hair Hemivertebrae Blepharitis Mixed hearing impairment Alopecia of scalp Parakeratosis Uveitis Oligodactyly Ectrodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Hydroureter Conjunctivitis Absent eyebrow Keratitis Intestinal obstruction Bifid scrotum Erythroderma Scaling skin Urticaria Plagiocephaly Opacification of the corneal stroma Occipital myelomeningocele


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