22q11.2 deletion syndrome differential diagnosis
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: : Ayushi Jain, M.B.B.S[2]
Overview
DGS must be differentiated from other diseases that cause similar clinical features and have a broad spectrum of presentation. All of the clinical findings associated with 22q11.2 deletion syndrome (22q11.2DS) can also occur as an isolated anomaly in an otherwise healthy individual. Genetic disorders and teratogenic exposures that may cause a clinical phenotype similar to 22q11.2DS are discussed in this section.
Differentiating [Disease name] from other Diseases
All of the clinical findings associated with 22q11.2 deletion syndrome (22q11.2DS) can also occur as an isolated anomaly in an otherwise healthy individual. Genetic disorders and teratogenic exposures that may cause a clinical phenotype similar to 22q11.2DS are discussed in this section. DGS must be differentiated from Smith-Lemli-Opitz syndrome, Oculo-auriculo vertebral (Goldenhar) syndrome (OAVS), Alagille syndrome, VATER association, and CHARGE syndrome.
Differentiating DGS from other diseases on the basis of overlapping features
| Differential Diagnosis | Clinical Manifestations Overlapping with DGS | ||
|---|---|---|---|
| Single Gene Disorders | |||
| Disorder | Gene Involved | Mode of Inheritance | |
| Smith-Lemli-Opitz syndrome | DHCR7 | AR | Polydactyly & cleft palate |
| Alagille syndrome | JAG1NOTCH2 | AD | Butterfly vertebrae, CHD, & posterior embryotoxon |
| CHARGE syndrome | CHD7 | AD | CHD, palatal anomalies, coloboma, choanal atresia, growth deficiency, ear anomalies / hearing loss, DDs, facial palsy, genitourinary anomalies, & immunodeficiency |
| Tetralogy of Fallot | TBX1 1 | AD | CHD, preauricular pits |
| Chromosome Disorders | - | - | |
| Deletion 10p13-p14 | - | cardiac defects, immune deficiency, hypoparathyroidism, cleft palate, developmental delay, microcephaly, and cryptorchidism | |
| Deletion 11q23-ter (Jacobsen syndrome) | - | - | microcephaly, micrognathia, low set ears, ocular manifestations, cardiac defects, hypospadias, cryptorchidism, and immune deficiency. |
| Other | - | - | |
| Disorders of unknown genetic etiology | - | - | |
| VACTERL association
(when congenital heart disease, vertebral, renal, and limb anomalies are present) |
- | - | VATER association is a diagnosis of exclusion without an established etiology to date |
| Oculoauriculovertebral (Goldenhar) syndrome (OAVS) (when ear anomalies, vertebral defects, heart disease, renal anomalies are present) | - | - | Ear anomalies, heart disease, Vertebral defects, renal anomalies. |
| Teratogenic exposures | - | - | A phenotype similar to 22q11.2DS can be associated with maternal diabetes and maternal retinoic acid exposure |