Table 3.

Differentiation between Sanjad–Sakati syndrome and Kenny–Caffey syndrome, types 1 and 2

Feature	Sanjad–Sakati syndrome	Kenny–Caffey syndrome, type 1	Kenny–Caffey syndrome, type 2
Craniofacial	Microcephaly	Microcephaly	Macrocephaly
	Micrognathia	Broad cheeks	Nanophthalmos
	Deep-set eyes	Hypertelorism	Corneal and retinal calcification
	Long philtrum	Dental caries	Congenital cataracts
	Posteriorly rotated ears
Skeletal	Delayed bone age	Delayed bone age	Osteosclerosis
	Patchy osteosclerosis	Poorly ossified skull bones	Thickened cortex and narrow marrow cavities of long bones
	Small hands and feet	Calvarial osteosclerosis
		Medullary stenosis of tubular bones
		Small hands and feet
Mental	Mental retardation (mild to moderate)	Mental retardation/normal mentality	Normal mentality
Other	Micropenis	–	–
	Cryptorchidism
	Ventricular dilatation
Laboratory findings	Hypocalcemia	Hypocalcemia	Transient hypocalcemia
	Low parathyroid hormone	Low parathyroid hormone	Low parathyroid hormone
	Hypophosphatemia	Low to low-normal magnesium	Transient hypophosphatemia
	Normal cell-mediated immunity		Deficient T-cell function
Molecular pathology	Mutation in the tubulin-specific	Mutation in the tubulin-specific	Unknown
	Cofactor E gene	Cofactor E gene
Inheritance	Autosomal recessive	Autosomal recessive	Autosomal dominant/X-linked

Adapted from Naguib KK, Gouda SA, Elshafey A, et al. Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. East Mediterr Health J. 2009;15(2):345–352.³