Immunodeficiency, and Choanal atresia

Diseases related with Immunodeficiency and Choanal atresia

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

Top matches:

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

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Other less relevant matches:

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

CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL 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

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

Medium match CHARGE SYNDROME

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases

Recurrent respiratory infections

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Seizures Hypertelorism Cryptorchidism Malar flattening Prominent nasal bridge Attention deficit hyperactivity disorder Inguinal hernia Anal atresia Ventricular septal defect Narrow mouth Microphthalmia Hypospadias Growth delay Renal hypoplasia Failure to thrive Vesicoureteral reflux Cleft upper lip Atrial septal defect Conductive hearing impairment Polydactyly Hydronephrosis Toe syndactyly Syndactyly Anal stenosis Hernia Muscular hypotonia Blepharophimosis Cleft lip Scoliosis Neoplasm Micrognathia Depressed nasal bridge Tics Truncus arteriosus Bowel incontinence Behavioral abnormality Obsessive-compulsive behavior Photophobia Micropenis Underdeveloped nasal alae Highly arched eyebrow Long face Arachnodactyly Joint hyperflexibility Recurrent urinary tract infections Facial asymmetry Clinodactyly of the 5th finger Depressivity Sensorineural hearing impairment Low-set ears Umbilical hernia Hand polydactyly Patent ductus arteriosus Pulmonary hypoplasia Hydrocephalus Renal agenesis Oligohydramnios Omphalocele Abnormality of cardiovascular system morphology Renal dysplasia Tetralogy of Fallot Abnormal heart morphology Cupped ear Abnormality of the urinary system Abnormal eyelid morphology

Rare Symptoms - Less than 30% cases

Abnormality of dental enamel Abnormal aortic valve morphology Optic atrophy Premature birth Wide nasal bridge Bowing of the long bones Pointed chin Coxa valga Epicanthus Short distal phalanx of finger Oculomotor apraxia Sandal gap Aortic regurgitation Pyloric stenosis Aortic aneurysm Language impairment Arrhinencephaly High, narrow palate Downslanted palpebral fissures Ulnar deviation of finger Pes planus Anorectal anomaly Hyperkeratosis Polyhydramnios Hypothyroidism Autism Abnormal facial shape Thin upper lip vermilion Talipes equinovarus Deeply set eye Hyperlordosis Camptodactyly of finger Feeding difficulties in infancy Long philtrum Foot polydactyly Smooth philtrum Ptosis Hypocalcemia Recurrent bacterial infections Choanal stenosis Blindness Abnormality of the thymus Abnormality of the pinna Respiratory tract infection Corneal opacity Hip dislocation Talipes Ventriculomegaly Postaxial polydactyly Anophthalmia Specific learning disability Abnormality of the ribs Aganglionic megacolon Cutaneous syndactyly Hemivertebrae Recurrent infections Feeding difficulties Plagiocephaly Absent eyebrow Laryngomalacia Ankyloglossia Abnormality of earlobe Absent toenail Absent eyelashes Mixed hearing impairment Absent fingernail Overfolded helix Flexion contracture Branchial fistula Spina bifida Preauricular skin tag Bifid scrotum Nystagmus Alopecia Facial palsy Strabismus Short palm Gastroesophageal reflux Ectrodactyly Hypogonadotrophic hypogonadism Blepharitis Telecanthus Conjunctivitis Abnormality of the hair Keratitis Hydroureter Absent septum pellucidum Urethral atresia Abnormality of the genital system Mental deterioration Retrognathia Macrotia Respiratory failure Upslanted palpebral fissure Pneumonia Thrombocytopenia Respiratory insufficiency Short neck Hypohidrosis Lymphopenia Ectodermal dysplasia Carious teeth Small for gestational age Hypoplasia of the thymus Recurrent corneal erosions Microtia Heat intolerance Short philtrum Growth hormone deficiency Nail dysplasia Ambiguous genitalia Lop ear Gonadotropin deficiency Platybasia Small earlobe Abnormality of the pharynx Dental crowding Encephalocele Bilateral choanal atresia Abnormal thrombocyte morphology Anterior hypopituitarism Seborrheic dermatitis Renal hypoplasia/aplasia Tetany Impaired T cell function Wide nose Abnormal pulmonary valve morphology Abnormality of the cervical spine Abnormality of female internal genitalia Dental malocclusion Interrupted aortic arch Dimple chin Narrow naris Microphallus High palate Wide intermamillary distance Lacrimation abnormality Finger syndactyly Peripheral pulmonary artery stenosis Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Corneal neovascularization Meningocele Abnormality of the uterus Hand monodactyly Cholelithiasis Polycystic kidney dysplasia Nasal speech Aplasia/Hypoplasia of the thymus Schizophrenia Hypopigmented skin patches Purpura Unilateral facial palsy Hypoplasia of the cochlea Abnormality of the inner ear Bifid femur Gastrointestinal hemorrhage Intestinal malrotation Asthma Abnormal soft palate morphology Bulbous nose Autoimmunity Parathyroid hypoplasia Hypoplasia of the semicircular canal Abnormality of the thorax Lymphadenopathy Chronic obstructive pulmonary disease Bipolar affective disorder Atelectasis Varicose veins Atresia of the external auditory canal Abnormality of the skull Multiple renal cysts Patellar dislocation Hypoparathyroidism Turricephaly Abnormal lung lobation Chronic otitis media Posterior embryotoxon Hyperthyroidism Aortic arch aneurysm Dysphasia Acne Abnormality of the adrenal glands Abnormality of bone mineral density Abnormal palmar dermatoglyphics Square face Aplasia/Hypoplasia of the earlobes Pectus carinatum Clitoral hypertrophy Aspiration Midline nasal groove Lacrimal duct aplasia Delayed eruption of teeth Webbed neck Dandy-Walker malformation Anxiety Small nail Posterior choanal atresia Short thumb Narrow face Severe T-cell immunodeficiency Horseshoe kidney Short chin Holoprosencephaly Torticollis Cranial nerve paralysis Abnormality of the outer ear Parachute mitral valve Anosmia Abnormality of vision Reduced number of teeth Wide pubic symphysis Abnormality of the small intestine Aplasia/Hypoplasia of the cerebellum Visual loss Coloboma Paralysis Postnatal growth retardation Abnormality of the eye Pulmonic stenosis Apnea Low-set, posteriorly rotated ears Hypogonadism Delayed puberty Prominent forehead Midface retrusion Iris coloboma Anteverted nares Abnormality of the skeletal system Dysphagia Brachydactyly Generalized hypotonia Abnormality of the umbilicus Aplasia/Hypoplasia of the sternum Malformed lacrimal duct Extension of hair growth on temples to lateral eyebrow Laryngeal atresia Chorioretinal coloboma Tracheoesophageal fistula Aqueductal stenosis Abnormal cortical gyration Abnormality of the anus Bilateral renal agenesis Subglottic stenosis Duodenal atresia Bilateral microphthalmos Gonadoblastoma Vaginal atresia Retinal coloboma Bicornuate uterus Facial paralysis Upper eyelid coloboma Hyposmia Calvarial skull defect Abnormality of tibia morphology Myelomeningocele Postaxial foot polydactyly Labial hypoplasia Abnormal cardiac septum morphology Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Laryngeal stenosis Eyelid coloboma Mask-like facies Broad neck Hypoplasia of the ulna Vestibular dysfunction External genital hypoplasia Broad palm Weak cry Abnormality of immune system physiology Absent radius Esophageal atresia External ear malformation Double outlet right ventricle Down-sloping shoulders Abnormality of the nares Hypoplastic superior helix Morphological abnormality of the middle ear Hypoplasia of the zygomatic bone Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Cryptophthalmos Cleft ala nasi Abnormal cranial nerve morphology Difficulty in tongue movements Abnormally large globe Facial cleft Psoriasiform dermatitis Arthritis Cutaneous photosensitivity Recurrent pneumonia Low anterior hairline Sinusitis Cafe-au-lait spot Telangiectasia Bronchiectasis Chronic diarrhea Abnormality of the face Primary amenorrhea Sloping forehead Deep philtrum Amenorrhea Convex nasal ridge Otitis media Prominent nose Lymphoma Neurodegeneration Hemolytic anemia Leukemia Intellectual disability, moderate Abnormality of the nervous system Cachexia Premature ovarian insufficiency Diarrhea B-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections Recurrent bronchitis Abnormality of neuronal migration Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Freckling Long nose Non-midline cleft lip Combined immunodeficiency Hyperactivity Skeletal muscle atrophy Recurrent infection of the gastrointestinal tract Sparse and thin eyebrow Split foot Xerostomia Hypoplastic nipples Hypopituitarism Epiphora Preaxial polydactyly Abnormality of the genitourinary system Oligodontia Sparse eyelashes Thin skin Depressed nasal tip Split hand Sparse scalp hair Microdontia Broad nasal tip Hypodontia Hypoplasia of the maxilla Oral cleft Abnormality of the foot Posteriorly rotated ears Fever Bilateral cleft lip Blue irides Muscle weakness Abnormality of the nasopharynx Ataxia Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Dacryocystitis Semilobar holoprosencephaly Ureterocele Nail pits Duplicated collecting system Fair hair Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Sparse pubic hair Rectovaginal fistula Dysuria Sparse axillary hair Generalized hypopigmentation Anodontia T-cell lymphoma Penoscrotal hypospadias Myalgia Cheilitis Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Alopecia universalis Scleritis Oxycephaly Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Hypoplastic fingernail Follicular hyperkeratosis Corneal erosion Abnormal eyelash morphology Alopecia of scalp Parakeratosis Hypoplasia of the bladder Thin fingernail Submucous cleft hard palate Body odor Glaucoma Constipation Obesity Splenomegaly Intellectual disability, mild Abnormality of the dentition Cataract Asymmetric crying face Dermoid cyst Small face Abnormal pelvis bone morphology Preauricular pit Congenital contracture Hemangioma Spina bifida occulta Congenital hip dislocation Interphalangeal joint contracture of finger Cerebellar atrophy Motor delay Unilateral chest hypoplasia Ichthyosis follicularis Uveitis Oligodactyly Dysgammaglobulinemia Cerebellar hypoplasia Erythema Developmental regression Camptodactyly Abnormality of the kidney Cerebral cortical atrophy Hyperhidrosis Dementia Severe short stature Agenesis of corpus callosum Delayed skeletal maturation Papule Dilatation Kyphosis Intellectual disability, severe Hypoplasia of the corpus callosum Respiratory distress Frontal bossing Myopia Progressive vitiligo Mastoiditis Malar prominence Scarring Nail dystrophy Atonic seizures Abnormality of the nail Congenital ichthyosiform erythroderma Abnormality of the vertebral column Intestinal obstruction Unilateral renal agenesis Erythroderma Scaling skin Urticaria Abnormality of the hand Opacification of the corneal stroma Multicystic kidney dysplasia Abnormal vertebral morphology Platyspondyly Hypoplasia of dental enamel Epidermal acanthosis Eczema Postaxial hand polydactyly Brain atrophy Palmoplantar keratoderma Ichthyosis Dry skin Astigmatism Hypotrichosis Decreased antibody level in blood


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