Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features

Table 1

Summary of clinical clues for diagnosis of genetic disorders associated with hypoparathyroidism other than 22q11.2 deletion syndrome.

Disorders	Associated features
Isolated hypoparathyroidism from mutations in PTH, GCMB, CaSR gene	None
Polyglandular autoimmune syndrome	Addison’s disease, alopecia, autoimmune thyroid disease, diabetes mellitus type 1, mucocutaneous candidiasis, vitiligo
Hypoparathyroidism-retardation-dysmorphism syndrome
(i) Sanjad-Sakati syndrome	Microcephaly, microphthalmia, mental retardation, short stature, small size of hands, feet, abnormal teeth
(ii) Kenny-Caffey syndrome	Dwarfism, eye abnormalities, medullary stenosis of the long bone
Hypoparathyroidism-deafness-renal dysplasia syndrome	Deafness, renal dysplasia
Mitochondrial disorders associated with hypoparathyroidism
(i) Kearns-Sayre syndrome	Cardiac conduction abnormalities, ophthalmoplegia, retinal pigmentation
(ii) Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome)	As the name implies