Immunodeficiency, and Anal atresia

Diseases related with Immunodeficiency and Anal atresia

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

Top matches:

Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Other less relevant matches:

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

High match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C 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

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

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Top 5 symptoms//phenotypes associated to Immunodeficiency and Anal atresia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Anal atresia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypospadias

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Decreased antibody level in blood Hemolytic anemia Ventricular septal defect Muscular hypotonia Autoimmunity Recurrent infections Hearing impairment Seizures Diarrhea Generalized hypotonia Short neck Hydronephrosis Micrognathia Patent ductus arteriosus Atrial septal defect Inguinal hernia Cryptorchidism Growth delay Autoimmune hemolytic anemia Anal stenosis Depressed nasal bridge Intrauterine growth retardation Renal agenesis Abnormal facial shape Purpura Recurrent respiratory infections Wide nasal bridge Hydrocephalus Lymphopenia Conductive hearing impairment Abnormal heart morphology Intestinal malrotation Scoliosis Abnormality of the urinary system Brachydactyly Anxiety Low-set ears High palate Feeding difficulties in infancy Hypoplasia of the thymus Prominent nasal bridge Thrombocytopenia Cleft upper lip Abnormality of the pinna Syndactyly Depressivity Obesity Kyphosis Micropenis Prominent nose Cleft lip Anorectal anomaly Abnormality of cardiovascular system morphology Hypothyroidism Combined immunodeficiency Tetralogy of Fallot Anemia Abnormality of the skeletal system Alopecia Vesicoureteral reflux Choanal atresia Impaired T cell function Otitis media Posteriorly rotated ears Growth hormone deficiency Renal dysplasia Small for gestational age Hand polydactyly Autoimmune thrombocytopenia Posterior embryotoxon Pneumonia

Rare Symptoms - Less than 30% cases

Bulbous nose Abnormality of the dentition Dental malocclusion Wide nose Pulmonary hypoplasia Hypodontia Oral cleft Underdeveloped nasal alae Epicanthus Finger syndactyly Oligohydramnios Microdontia Ptosis Polydactyly Strabismus Failure to thrive Truncus arteriosus Microphthalmia Sparse and thin eyebrow Seborrheic dermatitis Hydroureter Platybasia Depressed nasal tip Abnormality of neuronal migration Cholelithiasis Renal hypoplasia Schizophrenia Urethral atresia Unilateral renal agenesis Hyperactivity Patellar dislocation Acne Nasal speech Macrotia Bipolar affective disorder Retrognathia Intellectual disability, moderate Mental deterioration Attention deficit hyperactivity disorder Fever Malar flattening Amenorrhea Intellectual disability, mild Telecanthus Toe syndactyly Specific learning disability Upslanted palpebral fissure Short philtrum Meningocele Blepharophimosis Hypoparathyroidism Myelomeningocele Vitiligo Cupped ear Spina bifida Hypocalcemia Primary amenorrhea Foot polydactyly Carious teeth Cafe-au-lait spot Arthritis Postnatal growth retardation Polyhydramnios Sparse hair Pulmonic stenosis Mitral stenosis Abnormal cardiac septum morphology Omphalocele Hearing abnormality Psoriasiform dermatitis Recurrent infection of the gastrointestinal tract Inflammation of the large intestine Absent eyebrow Thyroiditis Hashimoto thyroiditis Severe combined immunodeficiency Abnormality of the kidney Gastroesophageal reflux Humoral immunodeficiency Bifid uvula Duodenal stenosis Horseshoe kidney Splenomegaly Brachycephaly Abnormality of the hand Lymphoma Recurrent otitis media Bronchiectasis Sinusitis Recurrent pneumonia B lymphocytopenia Conjunctivitis Abnormal intestine morphology Failure to thrive in infancy Chronic otitis media Low posterior hairline IgA deficiency Pierre-Robin sequence Recurrent bronchitis Glaucoma Coloboma Single transverse palmar crease Skeletal dysplasia Feeding difficulties Broad nasal tip Delayed speech and language development Optic atrophy Downslanted palpebral fissures Hernia Behavioral abnormality Abnormality of the nervous system Cataract Limb undergrowth Abnormal eyelid morphology Dilatation Umbilical hernia Double outlet right ventricle Adrenal hypoplasia Cognitive impairment Hypoplasia of the corpus callosum Delusions Intellectual disability, severe Narrow nasal bridge Primum atrial septal defect Cerebellar atrophy Congenital cataract Complete atrioventricular canal defect Absent speech Aplasia of the uterus Mood swings Perimembranous ventricular septal defect Mesomelia Interrupted aortic arch Graves disease Aggressive behavior Congenital glaucoma Dementia Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Abnormality of the hip bone Echolalia Paranoia Atrioventricular canal defect Single umbilical artery Missing ribs Abnormal tricuspid valve morphology Psychosis Open mouth Posterior fossa cyst Hallucinations Abnormality of the fontanelles or cranial sutures Hypoplastic fingernail Multicystic kidney dysplasia Chorea Abnormal mitral valve morphology Lethal skeletal dysplasia Arnold-Chiari malformation Bicuspid aortic valve Aplasia/Hypoplasia of the nipples Holoprosencephaly Peripheral demyelination Dysdiadochokinesis Dysmetria Axonal loss Cerebellar malformation Narrow palpebral fissure Facial hemangioma Ectopic anus Enlarged cisterna magna Submucous cleft hard palate Basal ganglia calcification Rheumatoid arthritis Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Contractures of the large joints Obsessive-compulsive behavior Apathy Communicating hydrocephalus Right aortic arch Abnormal lung lobation Retinal vascular tortuosity Hyperbilirubinemia Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Preauricular pit Bilateral cryptorchidism Precocious puberty Brittle hair Poor suck Abnormal dermatoglyphics Congenital hip dislocation Scaphocephaly Increased body weight Abnormal vertebral morphology Long eyelashes Heterotopia Small nail Blue sclerae Coarctation of aorta Congenital diaphragmatic hernia Highly arched eyebrow Hirsutism Polymicrogyria Joint hypermobility Astigmatism Malabsorption Overweight Short columella Protruding ear Epibulbar dermoid Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Common atrium Vertebral clefting Abnormality of the middle ear Short 5th finger Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Optic nerve coloboma Retinal coloboma Paralysis Respiratory tract infection Giant platelets Constipation Abnormality of the thorax Polycystic kidney dysplasia Laryngomalacia Hypopigmented skin patches Abnormality of dental enamel Aganglionic megacolon Gastrointestinal hemorrhage Asthma Long face Arachnodactyly Joint hyperflexibility Myalgia Narrow mouth Autism Long philtrum Dysphasia Talipes equinovarus Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Overfolded helix Bowel incontinence Joint laxity Retinal arteriolar tortuosity Hypoglycemia Jaundice Pes planus Severe short stature Visual loss Clinodactyly Renal insufficiency Myopia Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Abnormal pulmonary valve morphology Hyperthyroidism Arrhinencephaly Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormality of the skull Multiple renal cysts Turricephaly Prominent occiput Hepatomegaly Hypoplastic left heart Encephalocele Absent eyelashes Facial cleft Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Anophthalmia Clitoral hypertrophy Atresia of the external auditory canal Renal hypoplasia/aplasia Cutaneous syndactyly Dental crowding Ambiguous genitalia Choanal stenosis Wide intermamillary distance Postaxial polydactyly Corneal opacity Blindness Severe platyspondyly Cervical instability Narrow greater sacrosciatic notches Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Hepatic cysts Dislocated radial head Metaphyseal dysplasia Postaxial foot polydactyly Calvarial skull defect Neurodevelopmental delay Cryptophthalmos Malformed lacrimal duct Extension of hair growth on temples to lateral eyebrow Laryngeal atresia Abnormality of the small intestine Severe T-cell immunodeficiency Wide pubic symphysis Midline nasal groove Lacrimal duct aplasia Hypoplastic superior helix Morphological abnormality of the middle ear Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Cleft ala nasi Abnormal cortical gyration Difficulty in tongue movements Abnormality of the nares Abnormality of the thymus Upper eyelid coloboma Laryngeal stenosis Abnormality of the anus Bilateral renal agenesis Subglottic stenosis Bilateral microphthalmos Gonadoblastoma Vaginal atresia Bicornuate uterus Disproportionate short stature Opisthotonus Abnormality of the umbilicus IgM deficiency Abnormality of abdomen morphology Alopecia of scalp Type I diabetes mellitus Thickened skin Hepatitis Sepsis Abdominal distention Nail dystrophy Scarring Posterior pharyngeal cleft Autoimmune neutropenia Gastrointestinal stroma tumor Lymphoproliferative disorder Duodenal atresia IgG deficiency Recurrent sinusitis Bronchitis Restrictive ventilatory defect Emphysema Recurrent bacterial infections Vasculitis Neutropenia Lymphadenopathy Abnormality of the liver Elevated hepatic transaminase Arthralgia Hematochezia Intestinal atresia Erythroderma Pectus excavatum Epiphyseal dysplasia Eosinophilia Coxa valga Progressive microcephaly Inflammatory abnormality of the skin Generalized-onset seizure Full cheeks Platyspondyly Craniosynostosis Muscular hypotonia of the trunk Coarse facial features Kyphoscoliosis Hyperreflexia Ectopic calcification Motor delay Nystagmus Abnormality of the ductus choledochus Peritoneal abscess Congenital cystic adenomatoid malformation of the lung Jejunoileal ulceration Decreased proportion of CD8-positive T cells Gastrointestinal atresia Jejunal atresia Rectal abscess Microcolon Bloody diarrhea Aplasia/Hypoplasia of the sternum Hyperkeratosis Aplasia/Hypoplasia of the cerebellum Neuroblastoma Pollakisuria Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Acute leukemia Acute lymphoblastic leukemia Abnormality of the musculature Penoscrotal hypospadias Freckling Long nose Non-midline cleft lip Premature ovarian insufficiency Deep philtrum Cachexia Low anterior hairline Abnormality of the hair Telangiectasia Chronic diarrhea Recurrent urinary tract infections Abnormality of the face T-cell lymphoma Dysgammaglobulinemia Sloping forehead Iris coloboma Chorioretinal coloboma Narrow palate Wormian bones Hemivertebrae Aortic valve stenosis Preauricular skin tag Large fontanelles Cerebellar vermis hypoplasia Hypoplasia of penis Dandy-Walker malformation Postural instability High, narrow palate Neurological speech impairment Malar prominence Broad forehead Camptodactyly High forehead Prominent forehead Cerebellar hypoplasia Short nose Ventriculomegaly Frontal bossing Macrocephaly Flexion contracture Progressive vitiligo Mastoiditis Cutaneous photosensitivity Convex nasal ridge Photophobia Abnormality of the genitourinary system Blue irides Bilateral cleft lip Split foot Blepharitis Xerostomia Hypoplastic nipples Ectrodactyly Hypopituitarism Absent septum pellucidum Epiphora Keratitis Preaxial polydactyly Oligodontia Anodontia Sparse eyelashes Hypogonadotrophic hypogonadism Hypohidrosis Abnormality of the genital system Thin skin Split hand Sparse scalp hair Nail dysplasia Ectodermal dysplasia Hypoplasia of the maxilla Abnormality of the foot Microtia Fair hair Generalized hypopigmentation Neurodegeneration Semilobar holoprosencephaly Leukemia Respiratory failure Respiratory insufficiency Skeletal muscle atrophy Muscle weakness Neoplasm Ataxia Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Dacryocystitis Ureterocele Sparse axillary hair Nail pits Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Sparse pubic hair Rectovaginal fistula Dysuria Heat intolerance Congenital mitral stenosis


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