[MIM 100 050, 305 400]

(Aarskog-Scott syndrome, faciogenital dysplasia , facio-digito-genital syndrome)

Very rare. Probably X-linked recessive transmission (but other types of transmission are possible) of a mutation of the FGD1 gene (Xp11.21) coding for a guanine nucleotide exchange factor, activating a guanine triphosphatase involved in cellular differentiation and migration. This mutation results in a disorder of the development of some elements of the skeleton of the face and extremities. 

Association of anomalies:

-         face: round face with hypertelorism. Ptosis; antimongoloid obliquity of palpebral fissures.  Short and upturned nose; stretched philtrum; cleft lip and/or palate; hypoplasia of the maxilla (flat facies) sometimes accompanied by deformation of the mandible; low-set, floppy and cup-shaped ears; hair implantation in a 'V' shape on the forehead; linear dimple under the lower lip

-          limbs: short thumbs; short and wide hands and feet ; abnormalities of the fingers or toes: syndactyly, brachydactyly or camptodactyly. "swan neck" deformity of the fingers 

-         genital: cryptorchidism, shawl-like scrotum.

-         short stature to the puberty

Mental retardation in 30 % of cases...

Sometimes:

-         cardiac malformation: ASD, VSD, pulmonary stenosis

-         laxity of ligaments

-         pectus excavatum

-         hepatic cirrhosis with portal hypertension

-         imperforated anus.

 Anesthetic implications: 

cardiac ultrasound. If possible, dynamic X-ray of the cervical spine or at least of the odontoid process. Hepatic function (hypersplenism, cirrhosis?). Risk of difficult intubation in case of jaw deformity; avoid hyperextension of the neck (risk of luxation). Lack of cooperation (mental retardation, behavioural disorders).

References : 

Updated December 2019