Otopalatodigital (OPD) Syndrome Type II

Genetic disorder involving the craniofacial, oral, and osseous structures, characterized by short stature, unusual facies, cleft palate, and multiple skeletal malformations. 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 Syndrome; FPO.

Approximately 20 cases reported in the literature.

As in otopalatodigital syndrome type I, X-linked transmission with intermediate expression in females and complete expression in males. The gene for OPD II could be allelic with the gene for OPD I.

Unknown.

Clinical based on the association of a 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 a 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.

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.

No known implications.

The similarity of these conditions has suggested this is a “family” or spectrum of skeletal dysplasias with a common biochemical and/or genetic etiology in their pathogenesis.

Larsen Syndrome: Genetic syndrome characterized by special facial features, multiple joint dislocations, finger and foot deformities, and airway and cardiac abnormalities.

Boomerang Dysplasia: Genetic disorder characterized by a form of lethal neonatal dwarfism in which the long bones have a boomerang shape, resulting in skeletal dysplasia.

Diastrophic Dysplasia: Rare disorder present at birth. Characterized by short stature and short-limbed dwarfism, skeletal dysplasia, joint dysplasia, scoliosis and/or kyphosis, abnormal tissue changes of the outer visible portions of the ears (pinnae), and craniofacial anomalies.

Melnick-Needles Syndrome (MSN): Lethal male form is a genetic disorder characterized by abnormal bone development. Bowing of the bones in the arms and legs is characteristic. Particular facial appearance includes hypertelorism, full cheeks, small facial bones, and severe micrognathia. Other features include a relatively small ...