Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies-2 (SSFSC2) is characterized by thin and short long bones, distinctive facial dysmorphism, and dental and skeletal abnormalities, in the absence of developmental delay or intellectual disability. Feb 16, · Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray.
Facial, Skeletal, and Dental Abnormalities Facial abnormalities seen in the majority of the patients are a protruding, prominent mandible and forehead, apparent ocular hypertelorism, a broad nasal bridge, and a wide, fleshy nasal tip with increased interalar distance (Fig. ). Midline anomalies common in this disorder are high-arched palate. Jul 12, · A skeletal deformity in the face means that parts of the face either grew too much or too little. Sometimes the bones do not connect, which is called cleft. Facial skeletal deformities most often occur in the lower third of the face. Overbite, underbite, open bite, protruding jaw and asymmetry are different types of facial deformities.5/5().
Congenital craniofacial abnormalities are a group of defects caused by abnormal growth and/or development of the head and facial soft-tissue structures and/or bones. (See also Introduction to Congenital Craniofacial and Musculoskeletal Disorders.). Aug 23, · Maxillofacial deformities include a good number of alterations that are characterized by involving different elements of the facial skeleton. In a generic way, these are divided into two large groups: congenital and acquired. In the congenital group are included t hose alterations that are already present in the individual at the time of birth.
Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities.