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;
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
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.
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
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
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 ...