[MIM 102 400, 102 500]

(Autosomal dominant acro-osteolysis , acro-dento-osseous dysplasia, Cheney syndrome)

Extremely rare. Autosomal dominant transmission or sporadic mutation of the NOTCH2 gene (1p12). Connective tissue disease causing poor bone development. Its main sign is acro-osteolysis (= disappearance of the bones of the hands and feet) with painful swelling of the fingers and toes (pseudo-clubbing).

In addition, there can be:

-        small mouth with dental anomalies

-        short neck, small stature

-        coarse facies with low-set ears, bushy eyebrows and eyelashes, straight hair, hypertelorism

-         bowing of long bones

-        ligamentous laxity : dislocation of radial head or patella

-        craniofacial osseous anomalies : wormian bones, platybasia, micrognathia and prognathism in adolescence. At the level of the skull, there is a failure of ossification of the sutures with thickening of the vault, absence of frontal sinus, lengthening of the sella turcica and basilar impressions. This platybasia can result in instability of the cervical vertebrae with Chiari malformation, hydrocephalus, conduction deafness, paralysis of the vocal cords, sleep apnea

-        general osteoporosis: frequent scoliosis

Sometimes, renal cysts with progressive renal failure, cleft palate, progressive thickening of myxomatous type  of the cardiac valves.

Treatment: calcium, vitamin D, bisphosphonates.

Anesthetic implications: 

risk of difficult intubation. Avoid excessive mouvements the cervical spine, protection of the teeth during laryngoscopy or insertion of a supraglottic airway. In one published case, an endotracheal tube with a diameter smaller than calculated according to age had to be used. Delicate positioning (osteoporosis). Monitor renal function. Echocardiography (cardiac valves ?).

References : 

-        August DA, Ramos DC. 
Anesthesia for a child with Hajdu-Cheney syndrome.
Pediatr Anesth 2009; 19: 649-50

-        Zietz D, Aubel EB, Tao W. 
Continuous spinal labor analgesia in a patient with Hajdu-Cheney syndrome. 
Reg Anesth Pain Med 2013; 38: 466-7.

-        Yamguchi S, Nakamura K, Takahashi Y. 
A case report of anesthesia for a child with Hajdu-Cheney syndrome. 
J Anesth 2013; 27: 949-50.

-        Herd RS, Sprung J, Weingarten TN. 
Primary osteolysis syndromes: beware of difficult airway. 
Pediatr Anesth 2015; 25: 727-37. 

-        Kokita A, Chaki T, Yamakage M.
A case of safe airway management by fiber‑optic nasotracheal intubation in general anesthesia in a pediatric patient with Hajdu‑Cheney syndrome: a case report.
JA Clinical Reports 2023 ; 9:33 doi.org/10.1186/s40981-023-00627-7

Updated: June 2023