Presenting signs and symptoms depend on age at diagnosis and the organ system affected. Knowledge of the particular characteristics for a given age helps guide follow-up and management. [bestpractice.bmj.com]

[…] frequent (present in 80%-99% of cases) Bulbous nose Very frequent (present in 80%-99% of cases) Conductive hearing impairment Very frequent (present in 80%-99% of cases) Dysphasia Very frequent (present in 80%-99% of cases) Epicanthus Very frequent (present [web.archive.org]

It typically presents early in life and is rarely considered in adult patients. [dx.doi.org]

• Recurrent Infection

  Its symptoms vary greatly between individuals but commonly include a history of recurrent infection, heart defects, and characteristic facial features. Few cases of DiGeorge syndrome have been reported in adults. [ncbi.nlm.nih.gov]

  Seven (7) patients had recurrent infections, mainly pneumonia, and only one of them was free of any cardiac defect that might explain lung infections. Most infections occurred in the first year of life, before cardiac surgery. [scielo.br]

  Recurrent infections begin soon after birth, but the degree of immunodeficiency varies considerably, and T-cell function may improve spontaneously. Hypocalcemic tetany appears within 24 to 48 hours of birth. [msdmanuals.com]

• Short Stature

  Physical examination was remarkable for short stature, hypertelorism, prominent forehead and nasal voice. [ncbi.nlm.nih.gov]

  stature, and learning difficulty Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the thymus and parathyroid glands resulting in t-cell immunodeficiency, hypocalcemia, defects in the outflow tract of the [icd9data.com]

  Typical facies with a prominent nose and retruded mandible, cleft palate, cardiovascular defects, learning disability, retarded mental development, and short stature. Elements of this syndrome are frequently present in the robin syndrome. [web.archive.org]

• Increased Susceptibility to Infections

  The early onset of recurrent infections due to severe immunodeficiency is no longer the main clinical feature of DGS, because only patients with complete DGS have an increased susceptibility to infection. [scielo.br]

  In the majority of individuals, this increased susceptibility to infections spontaneously rectifies, and is more or less normal during the course of the child’s preschool and school years. [socialstyrelsen.se]

• Pulmonary Valve Stenosis

  The four defects include a ventricular septal defect (VSD), pulmonary valve stenosis, a misplaced aorta and a thickened right ventricular wall (right ventricular hypertrophy). [drugs.com]

  Hypoplastic left heart syndrome; pulmonary valve stenosis; double outlet right ventricle; bicuspid aortic valve; heterotaxy/A-V canal, transposition of the great vessels; isolated right pulmonary artery atresia; aortic root dilatation; aberrant subclavian [ncbi.nlm.nih.gov]

• Candidiasis

  Low-set ears, with a notched ear fold Small jaw A narrow, short groove in the upper lip Other signs and symptoms of DiGeorge syndrome include: Cleft palate Recurrent infections, such as chronic runny nose or multiple bouts of pneumonia, oral thrush (candidiasis [chd-uk.co.uk]

• Failure to Thrive

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties in infancy 0008872 Foot polydactyly Duplication of bones of the toes 0001829 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn [ more ] 0002020 Gastrointestinal [rarediseases.info.nih.gov]

  Symptoms and signs can consist of some mixture of the following: Tiring easily or weaknesses Bluish skin because of poor circulation of oxygen-rich blood Failure to gain weight Failure to thrive Muscle tone that is poor Infections that are frequent Problems [byebyedoctor.com]

  […] to thrive Occasional (present in 5%-29% of cases) Feeding difficulties in infancy Occasional (present in 5%-29% of cases) Foot polydactyly Occasional (present in 5%-29% of cases) Gastroesophageal reflux Occasional (present in 5%-29% of cases) Gastrointestinal [web.archive.org]

  […] to Thrive can result and most of these infants will die within a month from severe cardiac abnormalities or infections Infants must be isolated once immune deficiency is identified Survivors face increased susceptibility to respiratory infections Uneven [bilinguistics.com]

• Diarrhea

  […] ear fold Small jaw A narrow, short groove in the upper lip Other signs and symptoms of DiGeorge syndrome include: Cleft palate Recurrent infections, such as chronic runny nose or multiple bouts of pneumonia, oral thrush (candidiasis), diaper rash or diarrhea [chd-uk.co.uk]

  Discussion Some 12 million infants and young children die each year in developing countries from complications of marasmus (protein-calorie deficiency) and kwashiorkor (severe protein deficiency).[ 8 ] Diarrhea, dehydration, and infection are generally [nutritionj.biomedcentral.com]

  The other infections in the first 6 months included 20 bacterial lung infections, 19 bacterial urine infections, 19 viral infections, 6 episodes of diarrhea associated with Clostridium difficile, and 5 yeast infections. [doi.org]

  DIG012 was hospitalized for diarrhea and low calcium; however, it was the low calcium that made the admission necessary. [bloodjournal.org]

• Abdominal Pain

  A patient with DiGeorge syndrome and chronic abdominal pain due to gastroesophageal reflux disease (GERD) presented to our ED for severe abdominal pain. [ncbi.nlm.nih.gov]

• Microstomia

  The second case involved heart disease, microstomia, round and rotated ears and branchial cyst. Total T-lymphocytes were 38% and total T4-lymphocytes 27%. Thymus was absent. Microdeletion in the chromosome 22q11 region. [ncbi.nlm.nih.gov]

  Microstomia was found in 64.3% (9/14) of the patients, and 57.2% (8/14) had palate defects, micrognathia, and short stature. [scielo.br]

• High Arched Palate

  This sSMC, der(22)t(11;22)(q23;q11), is related to Emanuel syndrome, which is characterized by severe mental retardation, microcephaly, failure to thrive, preauricular tag or sinus, ear anomalies, and cleft or high-arched palate [ 33 ]. [doi.org]

• Low Set Ears

  Infants with DiGeorge syndrome have low-set ears, midline facial clefts, a small receding mandible, hypertelorism, a shortened philtrum, developmental delay, and congenital heart disorders. [msdmanuals.com]

  We present a case which had thymic aplasia, hypocalcemia, facial dysmorphism (hypertelorism, low set ears, cleft of soft palate, fish-like mouth and micrognathia) and congenital heart disease (ventricular septal defect, perimembranous type). [ncbi.nlm.nih.gov]

  DiGeorge syndrome may be Partial: Some T-cell function exists Complete: T-cell function is absent Symptoms and Signs Infants with DiGeorge syndrome have low-set ears, midline facial clefts, a small receding mandible, hypertelorism, a shortened philtrum [merckmanuals.com]

  […] eyes, small jaws, and low-set ears) and is typically caused by a deletion on the chromosome numbered 22 [merriam-webster.com]

• Hearing Impairment

  A large number of medical conditions may be associated with 22q11.2 deletion syndrome, such as hearing impairment, poor vision, breathing problems, poor kidney function and relatively short stature for one's family. [mayoclinic.org]

  impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Dysphasia 0002357 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Hypoplasia of the thymus Small thymus 0000778 Immunodeficiency Decreased immune function 0002721 Low-set [rarediseases.info.nih.gov]

  impairment, visual abnormalities, and altered kidney function Due to the significant variability of DiGeorge syndrome, the type and severity of symptoms are typically determined by the organ system affected. [medicalnewstoday.com]

  […] frequent (present in 80%-99% of cases) Abnormality of the pulmonary valve Very frequent (present in 80%-99% of cases) Atrial septal defect Very frequent (present in 80%-99% of cases) Bulbous nose Very frequent (present in 80%-99% of cases) Conductive hearing [web.archive.org]

• Strabismus

  Tortuous retinal vessels, posterior embryotoxin, eyelid hooding, strabismus, refractive errors, and ptosis are the most commonly reported ocular symptoms of DGS. [eyewiki.aao.org]

  0001561 Purpura Red or purple spots on the skin 0000979 Retinal arteriolar tortuosity 0001136 Schizophrenia 0100753 Scoliosis Abnormal curving of the spine 0002650 Seizures Seizure 0001250 Short philtrum 0000322 Splenomegaly Increased spleen size 0001744 Strabismus [rarediseases.info.nih.gov]

  Schizophrenia Occasional (present in 5%-29% of cases) Scoliosis Occasional (present in 5%-29% of cases) Seizures Occasional (present in 5%-29% of cases) Short philtrum Occasional (present in 5%-29% of cases) Splenomegaly Occasional (present in 5%-29% of cases) Strabismus [web.archive.org]

  Elongated fingers were observed in 50% of the patients; straight facial profile, dental abnormalities and over-folded ear helix in 42.8% (6/14); hypertelorism in 35.8% (5/14); and strabismus in 21.5% (3/14). [scielo.br]

  Strabismus was observed in 13% and amblyopia in 6%. While posterior embryotoxon was observed in 12%-32% of controls, the incidence in individuals with 22q11.2DS was almost as high as that seen in Alagille syndrome (89%) [ Krantz et al 1997 ]. [ncbi.nlm.nih.gov]

• Antimongoloid Slant

  DiGeorge syndrome (DGS) is characterized by typical facial features including a short philtrum of the upper lip, hypertelorism, an antimongoloid slant to the eyes, mandibular hypoplasia, and low -set, often notched ears ( Figure 1), conotruncal defects [immunoloji.uludag.edu.tr]

• Hypertelorism

  Infants with DiGeorge syndrome have low-set ears, midline facial clefts, a small receding mandible, hypertelorism, a shortened philtrum, developmental delay, and congenital heart disorders. [msdmanuals.com]

  We present a case which had thymic aplasia, hypocalcemia, facial dysmorphism (hypertelorism, low set ears, cleft of soft palate, fish-like mouth and micrognathia) and congenital heart disease (ventricular septal defect, perimembranous type). [ncbi.nlm.nih.gov]

• Bulbous Nose

  DGS Symptoms & Diagnosis Symptoms Certain facial features are often seen with DGS - low set ears, underdeveloped chin, a short philtrum (the vertical groove on the upper lip), a bulbous nose tip, heavy eyelids and/or a small mouth. [aaaai.org]

  […] nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ] 0000431 30%-79% of people have these symptoms Abnormality of the tonsils 0100765 Acne 0001061 Arachnodactyly [rarediseases.info.nih.gov]

  […] frequent (present in 80%-99% of cases) Abnormality of the pharynx Very frequent (present in 80%-99% of cases) Abnormality of the pulmonary valve Very frequent (present in 80%-99% of cases) Atrial septal defect Very frequent (present in 80%-99% of cases) Bulbous [web.archive.org]

• Seizure

  At the age of 13 years, he experienced a seizure for the first time. At this time, the calcium concentration was normal. An electroencephalogram (EEG) proved that the seizure was due to epilepsy. Antiepileptic medications controlled the seizure. [ncbi.nlm.nih.gov]

  A large cohort study showed that 21% of the patients with chromosome 22q11.2 deletion syndrome (62/290) had seizures, and at least 68% (42/62) of the seizures were hypocalcemic in origin [ 8 ]. [dx.doi.org]

• Language Delays

  Our observations suggest a phenotype comprised of a borderline to mildly retarded level of intellectual functioning, a language delay, a general deficit in social initiation, difficulties with attention/concentration, and a perturbed train of thought. [ncbi.nlm.nih.gov]

  a language delay, a general deficit in social initiation, difficulties with attention/concentration, and a perturbed train of thought. [doi.org]

  Speech and palatal abnormalities More than 70% of the patients had a history of significant speech problems or language delays. [jamanetwork.com]

  Delayed development of speech and language skills Hypernasal speech (excessively nasal speech) due to velopharyngeal dysfunction (a condition in which the soft palate is unable to consistently elevate to contact the back of the throat; this prevents [bilinguistics.com]

• Nasal Speech

  The Speech and Language Pathology team is skilled at helping children with speech problems, and can help you find speech and language services in your community. Special testing is also available for children with 22q11 DS who have nasal speech. [web.archive.org]

  speech owing to palatal insufficiency. [jmg.bmj.com]

  speech Nasal voice 0001611 Platybasia 0002691 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Telecanthus Corners of eye widely [rarediseases.info.nih.gov]

• Global Developmental Delay

  developmental delay 0001263 Hypocalcemia Low blood calcium levels 0002901 Hypoparathyroidism Decreased parathyroid hormone secretion 0000829 Impaired T cell function T-cell dysfunction 0005435 Intellectual disability, mild Mental retardation, borderline-mild [rarediseases.info.nih.gov]

Autoimmune and sarcoidosis workup was negative. Inflammatory parameters gradually normalized following resolution of odontogenic infection and with the use of non-steroidal anti-inflammatory drugs (NSAIDs). [ncbi.nlm.nih.gov]

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genetic Testing 1, 99–108 (1997). 6 Gogos, J.A. et al. [doi.org]

(See DDx and Workup.) [emedicine.medscape.com]

McDonald-McGinn DMLaRossa DGoldmuntz E et al The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results—report on 181 patients. Genet Test. 1997;1:99-108. Google Scholar 18. [jamanetwork.com]

Immune deficiencies should be considered when infections are severe, persistent resistant to standard treatment, or caused by opportunistic organisms. [ncbi.nlm.nih.gov]

Complete DiGeorge syndrome is fatal without treatment, which is transplantation of cultured thymus tissue or hematopoietic stem cell transplantation. [msdmanuals.com]

Management and treatment Treatment depends on the associated abnormalities. It may consist of heart and/or palate surgery, speech therapy, nasogastric feeding, calcium supplementation, and psychological therapy. [orpha.net]

Treatment modalities depend on clinical manifestations present in the individual patient. Management is symptomatic and generally follows typical practice for patients without the syndrome, for any given feature. [bestpractice.bmj.com]

The clinical features, diagnosis, management, and prognosis of patients with DGS are presented separately. [uptodate.com]

Prognosis The prognosis is variable and depends on the severity of the disease. The infant mortality rate is relatively low (~4%); in adults mortality is higher than that of the rest of the adult population. [orpha.net]

Prognosis The prognosis is variable; many infants with DiGeorge syndrome die from overwhelming infection, seizures, or heart failure within the first year. [healthofchildren.com]

"DiGeorge Syndrome – Symptoms, Diagnosis, Treatment, Prognosis, Life Expectancy, Pictures." DiGeorge Syndrome. N.p., n.d. Web. 13 Mar. 2014. ▪ "DiGeorge Syndrome." Immune Deficiency Foundation. N.p., n.d. Web. 13 Mar. 2014. ▪ "DiGeorge Syndrome." [slideshare.net]

DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be etiologically identical and are referred to as 22q11.2 DS. [orpha.net]

Recognition of this etiology can improve patient outcomes and prevent recurrences. [ncbi.nlm.nih.gov]

One gene that is commonly deleted and implicated in the etiology is TBX1. [web.archive.org]

METHODS: Patients underwent standard clinical and epidemiological protocol and tests to detect heart diseases, facial abnormalities, dimorphisms, neurological or behavioral disorders, recurrent infections and other comorbidities. [ncbi.nlm.nih.gov]

This topic reviews the epidemiology and pathogenesis of DGS. The clinical features, diagnosis, management, and prognosis of patients with DGS are presented separately. [uptodate.com]

Summary Epidemiology The worldwide incidence is estimated at 1/2,000-1/4,000 live births. Clinical description 22q11.2 DS shows a variable clinical phenotype that can range from mild to severe. [orpha.net]

Epidemiological studies point to different etiologies underlying the oral cleft phenotypes, cleft lip (CL)... Transcriptomic analyses of Hand2 transgenic embryos. [researchmap.jp]

Here, we focus on recent advances in cardiac assessment, speech, immunology, and pathophysiology of velocardiofacial syndrome. [ncbi.nlm.nih.gov]

( Am J Med Genet Suppl 1986;2:113 ) Major targets are the organs derived from branchial apparatus; see details in Clinical Features Thyroid is one of the organs involved, however clinical impact in the thyroid is low compared to other manifestations Pathophysiology [pathologyoutlines.com]

This work is expected to (a) elucidate the pathophysiology of the CNS manifestations of the 22q11.2 syndrome and yield a brain intermediate phenotype that will allow studies in small and atypical deletion individuals in an effort to define individual [clinicaltrials.gov]

Pathophysiology The pathophysiology involves an embryologic defect in the 3 rd and 4 th pharyngeal pouch development from which thymus and the parathyroid glands evolve. [immunoloji.uludag.edu.tr]

The combination of preimplantation genetic diagnosis with fluorescence in-situ hybridization is recommended to prevent pregnancies with DiGeorge syndrome affected embryos in properly selected patients. [ncbi.nlm.nih.gov]

Although the goal to prevent infection and therefore increase life span in DiGeorge syndrome patients is improving, thymus transplantation requires the use of immunosuppressant drugs, to prevent transplant rejection. [oncofertility.northwestern.edu]

Three of 25 subjects had an abnormal response to tetanus antigen: 1 previously unvaccinated, 1 vaccinated 20 years before testing, and 1 with booster vaccination Live Vaccine–Preventable Illnesses Fourteen subjects experienced a live vaccine–preventable [pediatrics.aappublications.org]

Sometimes the heart disease is worse than the immunodeficiency, and surgery to prevent severe heart failure or death may be needed. The following is an English-language resource that may be useful. [msdmanuals.com]