Immunodeficiency, and Microtia

Diseases related with Immunodeficiency and Microtia

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Medium match SYNDROMIC DIARRHEA

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

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

Other less relevant matches:

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

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

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

Related symptoms:

  • Respiratory distress
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 39; IMD39

Top 5 symptoms//phenotypes associated to Immunodeficiency and Microtia

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Short stature Recurrent respiratory infections Ventricular septal defect Ventriculomegaly Atrial septal defect Cleft palate Abnormal facial shape Hearing impairment Retrognathia Hernia Abnormal heart morphology Narrow mouth Recurrent infections Polyhydramnios Abnormality of the pinna Generalized hypotonia Small for gestational age Renal agenesis Micrognathia Tetralogy of Fallot Intrauterine growth retardation Renal dysplasia Posteriorly rotated ears Hydronephrosis Cleft lip Cryptorchidism Failure to thrive Growth delay

Rare Symptoms - Less than 30% cases

Inguinal hernia Conductive hearing impairment Peripheral pulmonary artery stenosis Telecanthus Ptosis Strabismus Omphalocele Choanal atresia Respiratory distress Abnormal cardiac septum morphology Respiratory failure Abnormality of the genital system Pneumonia Hypocalcemia Iris coloboma Generalized tonic-clonic seizures Growth hormone deficiency Microphthalmia Malar flattening Hypothyroidism Fever Scoliosis Anal atresia Blepharophimosis Abnormality of cardiovascular system morphology Syndactyly Patent ductus arteriosus Hydrocephalus Micropenis Photophobia Vesicoureteral reflux Attention deficit hyperactivity disorder Short philtrum Umbilical hernia Bifid uvula Hypogonadotrophic hypogonadism Hypoplasia of the thymus Thrombocytopenia Long philtrum Anteverted nares Downslanted palpebral fissures Hepatomegaly Depressed nasal bridge Anemia Cognitive impairment Facial asymmetry Respiratory tract infection Abnormality of the foot Interrupted aortic arch Proptosis Autism Abnormality of the thymus Frontal bossing Epicanthus Delayed speech and language development Prominent forehead Cleft upper lip Hand polydactyly Delayed puberty Parathyroid hypoplasia Narrow face Nystagmus Talipes equinovarus Feeding difficulties Abnormality of the urinary system Behavioral abnormality Pulmonic stenosis Abnormality of the ribs Lymphopenia Holoprosencephaly Cutaneous syndactyly Hemivertebrae Obsessive-compulsive behavior Horseshoe kidney Cupped ear Short chin Plagiocephaly Chorioretinal coloboma Small nail Preauricular skin tag Overfolded helix Laryngomalacia Reduced number of teeth Short thumb Torticollis Cranial nerve paralysis Aspiration Renal hypoplasia Anosmia Abnormality of the outer ear Abnormality of vision Feeding difficulties in infancy Dandy-Walker malformation Sacral meningocele Dysphagia Optic atrophy Brachydactyly Muscular hypotonia Sensorineural hearing impairment Type I truncus arteriosus Parathyroid agenesis Decreased circulating parathyroid hormone level Accommodative esotropia Respiratory insufficiency Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Vascular tortuosity Abnormality of the middle ear Retinal vascular tortuosity Abnormality of the skeletal system Blindness Webbed neck Bifid scrotum Delayed eruption of teeth Highly arched eyebrow Talipes Prominent nasal bridge Pectus carinatum Coloboma Paralysis Postnatal growth retardation Abnormality of the eye Midface retrusion Apnea Low-set, posteriorly rotated ears Facial palsy Gastroesophageal reflux Hypogonadism Clinodactyly of the 5th finger Visual loss Hypospadias Anophthalmia Labial hypoplasia Aplasia/Hypoplasia of the cerebellum Long face Recurrent urinary tract infections Pachygyria Abnormal lung morphology Hypertrichosis Congenital diaphragmatic hernia Decreased fetal movement Ambiguous genitalia Convex nasal ridge Asthma Protruding ear Clitoral hypertrophy Recurrent bacterial infections Decreased antibody level in blood Lymphadenopathy Posterior choanal atresia Parachute mitral valve Hypoplasia of the semicircular canal Abnormal soft palate morphology Bifid femur Hypoplasia of the cochlea Multicystic kidney dysplasia Cortical gyral simplification Unilateral facial palsy Smooth philtrum Pierre-Robin sequence Arachnoid cyst Interstitial pulmonary abnormality Albinism Hypotelorism Delayed myelination Abnormal bleeding Generalized myoclonic seizures Neutropenia Muscular hypotonia of the trunk Scaphocephaly Abnormality of the nervous system EEG abnormality Hepatosplenomegaly Macrotia Cerebral atrophy Splenomegaly Dystonia Pulmonary artery hypoplasia Chronic lung disease Recurrent lower respiratory tract infections Hand monodactyly Aplasia/Hypoplasia of the thymus Tracheoesophageal fistula External ear malformation Duodenal atresia Eyelid coloboma Abnormally large globe Choanal stenosis Abnormal cranial nerve morphology Hypoplasia of the zygomatic bone Down-sloping shoulders Broad neck Double outlet right ventricle Esophageal atresia Facial paralysis Anal stenosis Absent radius Abnormality of immune system physiology Weak cry Broad palm Mixed hearing impairment External genital hypoplasia Vestibular dysfunction Hypoplasia of the ulna Mask-like facies Retinal coloboma Tics Abnormality of the inner ear Arrhinencephaly Square face Abnormal palmar dermatoglyphics Abnormality of bone mineral density Abnormality of the adrenal glands Aortic arch aneurysm Bilateral choanal atresia Lop ear Abnormality of the cervical spine Narrow naris Dimple chin Hyposmia Abnormality of female internal genitalia Microphallus Lacrimation abnormality Abnormal aortic valve morphology Gonadotropin deficiency Anterior hypopituitarism Aplasia/Hypoplasia of the earlobes Aqueductal stenosis Perisylvian polymicrogyria Abnormality of tibia morphology Duodenal stenosis Hemolytic anemia Impaired T cell function Galactosuria Toe syndactyly Carious teeth Hyperkeratosis Polydactyly Alopecia Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Humoral immunodeficiency Pulmonary hypoplasia Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Oral cleft Hypoplasia of the maxilla Abnormal thrombocyte morphology Sparse and thin eyebrow Hydroureter Epiphora Keratitis Preaxial polydactyly Abnormality of the genitourinary system Oligodontia Sparse eyelashes Conjunctivitis Hypohidrosis Hypodontia Thin skin Split hand Sparse scalp hair Oligohydramnios Microdontia Nail dysplasia Ectodermal dysplasia Broad nasal tip Trichorrhexis nodosa Abnormality of the pancreas Hypopituitarism Osteoporosis Cirrhosis Dry skin Broad forehead Sparse hair Abnormality of the liver Wide mouth Elevated hepatic transaminase Jaundice Diarrhea Wide nose Edema Wide nasal bridge Tall stature Febrile seizures Autistic behavior Absent speech Macrocephaly Motor delay Hepatic failure Sepsis Villous atrophy Hypoalbuminemia Large forehead Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Abnormality of the immune system Brittle hair Recurrent upper respiratory tract infections Premature birth Leukopenia Aortic regurgitation Abnormality of the hair Hepatic fibrosis Chronic diarrhea Depressed nasal ridge Fine hair Pancytopenia Aciduria Absent septum pellucidum Ectrodactyly Right aortic arch Exotropia Rheumatoid arthritis Cholelithiasis Nasal speech Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Purpura Spina bifida Amblyopia Unilateral renal agenesis Broad thumb Primary amenorrhea Short palpebral fissure Low posterior hairline Coarctation of aorta Amenorrhea Specific learning disability Chorea Psoriasiform dermatitis Acne Polymicrogyria Tetany Alcoholism Femoral hernia Perimembranous ventricular septal defect Graves disease Aplasia of the uterus Anterior segment developmental abnormality Seborrheic dermatitis Juvenile rheumatoid arthritis Myelomeningocele Inflammation of the large intestine Truncus arteriosus Sclerocornea Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Autoimmune hemolytic anemia High, narrow palate Bulbous nose Hypoplastic nipples Sparse axillary hair Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Sparse pubic hair Rectovaginal fistula Dysuria Heat intolerance Generalized hypopigmentation Duplicated collecting system Anodontia Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Blepharitis Xerostomia Nasolacrimal duct obstruction Abnormality of the nasopharynx Astigmatism High palate Autoimmunity Craniosynostosis Abnormality of the kidney Arthritis Obesity Hypertonia Hypoplasia of the corpus callosum Short neck Flexion contracture Nail pits Neoplasm Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Dacryocystitis Semilobar holoprosencephaly Ureterocele Ocular albinism


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