Genetic disorder involving the craniofacial, oral, and osseous structures, characterized by short stature, unusual facies, cleft palate, and multiple skeletal malformations. More severe form. Usually psychomotor development is normal, but some affected individuals are mentally retarded. Affected males show a very high incidence of neonatal and infancy death.
Cranioorodigital Syndrome; Faciopalatoosseous (FPO) Syndrome.
More than 20 cases have been reported.
As in Otopalatodigital Syndrome Type I, X-linked transmission with intermediate expression in females and complete expression in males.
Gain of function mutations in FLNA—a gene that encodes filamin A, which regulates reorganization of the cytoskeleton.
Clinical based on the association of characteristic facies and limb defects that can be confirmed radiologically. The presence of other affected male relatives in the maternal family makes diagnosis easier. Female carriers may present some milder features of the syndrome.
Affected patients have characteristic facies with severe micrognathia, microstomia, cleft palate, posteriorly rotated ears, prominent forehead, hypertelorism, and midfacial hypoplasia. They also present skeletal anomalies consisting of broad and short thumbs and halluces associated with short first and second metacarpals/metatarsals on the radiographs, bowing of the long bones, subluxation of many joints in the upper and lower limb, flexed overlapping fingers, clinodactyly, syndactyly of digits 3 and 4, and syndactyly of toes 2 to 5. Other features have been described, such as conductive deafness, growth failure, omphalocele, and other midline defects. Possible anomalies of the cervical spine. In affected boys, death often occurs before age 5 months as a consequence of respiratory insufficiency induced by recurrent aspiration and infection.
Precautions before anesthesia
Chest radiograph to rule out pulmonary infection. Radiograph of the spine to rule out cervical anomalies. Perform careful evaluation of the airway.
Patients present multiple craniofacial features that may render direct laryngoscopy and tracheal intubation difficult, so different intubating devices should be readily available. Potentially difficult intravenous access.
Other conditions to be considered
The similarity of the otopalatodigital spectrum disorders indicates a common biochemical and/or genetic etiology in their pathogenesis.
☞Melnick-Needles Syndrome: Genetic disorder characterized by abnormal bone development. Lethal male form is a genetic disorder characterized by abnormal bone development. Bowing of the bones in the arms and legs is a characteristic. Particular facial appearance includes hypertelorism, full cheeks, small facial bones, and severe micrognathia. Other clinical features include a relatively small chest cavity with irregular ribbon-like ribs, short clavicle, short stature, and narrow shoulders.
☞Frontometaphyseal dysplasia of Gorlin: Congenital syndrome ...