[MIM 241 410]

(SSS, Richardson-Kirk syndrome, HRD syndrome [HRD French acronym for Hypoparathyroidie Retard Dysmorphie], Middle-East syndrome)

Very rare. Autosomal recessive transmission (inbreeding) of mutations of the TBCE gene mutations (1q42-q43). More frequently reported in the Middle East and the areas of the Arabian Gulf (incidence of 7 to 8/100,000 births in Kuwait). Similar pathology as Kenny-Caffey syndrome.

Association of:

-        congenital hypoparathyroidism: hypocalcemia and hyperphosphatemia, nephrocalcinosis

-        major growth retardation with harmonious short stature, risk of pathological fractures in the neonatal period

-        dysmorphism: microcephaly, narrow facies, sunken eyes, convex nose, wide ears, retro- or micrognathia; one case of flaccid epiglottis, with redundant sus-glottic mucosal folds.

-        susceptibility to infection

-        epilepsy

-        ocular anomalies (progressive corneal opacity, tortuous retinal vessels) and dental  problems (hypomineralization, caries, agenesis)

Anesthetic implications:

short stature, endotracheal tube of smaller size than estimaed for age; risk of difficult intubation, epilepsy, avoid hyperventilation (tetany). Two published cases of central and obstructive apnea requiring nocturnal non-invasive ventilation: preoperative nocturnal oximetry?

References : 

-          Bassuni RA, El-Kotoury AIS. 
Sanjad-Sakati syndrome: a rare autosomal recessive disorder of congenital hypoparathyroidism-microcephaly-mentalretardation-seizures-growth retardation and dysmorphism. 
Med J Cairo Univ 2009; 77: 453-8.

-         Tanna N, Preciado DA, Biron N. 
The otololaryngologic features of Sanjad-Sakati syndrome. 
Arch Otol Head Neck Surg 2009; 137: 714-5

-         Platis CM, Wasersprung D, Kachko L, Tsunzer I, Katz J. 
Anesthesia management for the child with Sanjad-Sakati syndrome. 
Pediatr Anesth 2006, 16: 1189-92.

-         Pal K. Sanjad-Sakati syndrome in a neonate. 
Indian Pediatrics 2010; 47: 443-4

-         Kerkeni E, Sakka R, Sfar S, Bouaziz S et al. 
Sanjad-Sakati syndrome in a Tunisian child.  
Arch Pédiatr 2015; 22:951-5

-        Alshoaiby AN, Rafiq M, Jan R, Shahbaz M et al.
Anesthetic management of a case of Sanjad-Sakati syndrome.
Saudi J Anaesth 2016; 10: 453-5.

Updated: December 2017