Table 1.

Comparison of the main clinical features among different congenital disorders of thymic development.

	DGS	FOXN1	OTFC2 syndrome	CHARGE syndrome
Dysmorphic features	Low ears, telecanthus, down/up slanting palpebral fissures, short philtrum, velopharingeal insufficiency	Epicanthal folds	Ear malformations, preauricular fistulas, vertebral malformations, lacrimal ducts abnormalities, abnormal clavicles and scapulae, retrognathia, downslanting palpebral fissures, long eyelashes, blue sclerae, epicanthal folds, small nose	Ear abnomalities, coloboma, choanal atresia, cleft palate
Cutaneous alterations	–	Alopecia, nail distrophy	–	–
Thymic alterations	Aplasia (cDGS), hypoplasia/normal (pDGS)	Aplasia (homozygous mutations), hypoplasia (heterozygous mutations)	Aplasia/hypoplasia	Aplasia/hypoplasia
Cardiopathy	Tetralogy of fallot, ventricular septal defect, type B interrupted aortic arch, truncus arteriosus, right aortic arch, aberrant right subclavian artery	–	–	Atrial septal defects, ventricular septal defect, patent ductus arteriosus
Infections	Recurrent/severe infections (cDGS) recurrent infections (pDGS)	Recurrent/severe infections (homozygous mutations), recurrent infections (heterozygous mutations)	Recurrent/severe infections	Recurrent/severe infections
Omenn syndrome	+ (cDGS)	+ (homozygous mutations)	+	+

DGS, DiGeorge syndrome; cDGS, complete DGS; pDGS, partial DGS; OTFC2 syndrome, Otofaciocervical syndrome type 2; CHARGE syndrome, coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities syndrome.