Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital malformation syndromes affecting facial appearance |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
9 |
Magnetic resonance imaging of brain and facial bones without contrast (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure of face |
Inferred relationship |
Some |
3 |
Injury of facial bone due to birth trauma (disorder) |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Acquired deformity of facial bones |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
Cleft mandible |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Entire bone of face |
Is a |
False |
Bone structure of face |
Inferred relationship |
Some |
|
A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Oculodento-osseous dysplasia |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Oculodento-osseous dysplasia - severe type |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
8 |
Oculodento-osseous dysplasia - mild type (disorder) |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
8 |
Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
1 |
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Posterior perimaxillary faciosynostosis |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterised by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
1 |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
1 |
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma. |
Finding site |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Elevation of bone fragments for fracture of orbit |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Open reduction of orbital floor blowout fracture by transantral approach |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Elevation of bone fragments of orbit of skull with debridement |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
3 |
Closed reduction of fracture of periorbital bone |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Open reduction of fracture of orbit |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Elevation of orbital bone fragments of frontal sinus |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Reduction of fracture of orbital bones |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Open reduction of fracture of orbit with insertion of implant into bone of orbit |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Open reduction of orbital floor blowout fracture by periorbital approach |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Open reduction of orbital floor blowout fracture by combined approach |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Reduction of closed fracture of orbit bone |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Open reduction of fracture of orbit and internal fixation |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Orbital osteotomy |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Oculodento-osseous dysplasia - severe type |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary hemangioma. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
Oculodento-osseous dysplasia |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
Oculodento-osseous dysplasia - mild type (disorder) |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
3 |
Osteomyelitis of facial bone |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
Injury of facial bone due to birth trauma (disorder) |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
1 |
Ostectomy for graft of mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
4 |
Total osteotomy of mandible |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Orthognathic operation of mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Smith operation, open osteotomy of mandible |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
génioplastie d'augmentation avec greffe et implant |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
3 |
Reconstruction of mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Osteotomy of mandible |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Segmental osteotomy of mandible |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Subapical osteotomy of mandible |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Excision of bone of mandible with arthrodesis and reconstruction |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Excision of lingual torus |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Horizontal osteotomy of mandible |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Bone graft to mandible |
Procedure site - Indirect (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
3 |
Recession of prognathic jaw |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Procedure on mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Intermaxillary fixation of mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Extraoral fixation of mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Internal fixation of mandible with plating system |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
3 |
Internal fixation of mandible with wire |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Osteotomy of mandible and advancement of mandible |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Osteotomy of mandible and retrusion of mandible |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Sagittal split mandibular osteotomy |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Vertical sub-sigmoid mandibular osteotomy |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Genioplasty |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Alveolar bone graft |
Procedure site - Indirect (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
4 |
Manipulation of mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Prosthesis to mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Enucleation of lesion of mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Marsupialisation of lesion of mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Release of intermaxillary fixation |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Alveolar bone graft to mandible |
Procedure site - Indirect (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
4 |
Inverted L mandibular osteotomy |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
C mandibular osteotomy |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Forward sliding genioplasty |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Intermaxillary fixation of mandible and maxilla |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Mandible excision/reconstruction |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Adjust fixation of mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Internal fixation of mandible with arch bars |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
3 |
Total mandibulectomy with reconstruction |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
3 |
Autologous graft of rib cartilage to chin (procedure) |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Removal of sequestra from mandibular wound |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Augmentation genioplasty |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Osteotomy of mandible by Gigli saw |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Reduction genioplasty |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
3 |
Operation on mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Excision of lesion of mandible (procedure) |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
1 |
Removal of graft from mandible |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Excision of benign neoplasm of mandible (procedure) |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Posterior segmental osteotomy of mandible (procedure) |
Procedure site - Direct (attribute) |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Sliding osteotomy of chin with single piece implant (procedure) |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
3 |
Fixation of mandible (procedure) |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Fixation of mandible - internal |
Procedure site |
False |
Bone structure of face |
Inferred relationship |
Some |
2 |
Multiple open fractures of facial bones |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
1 |
Fracture of bone of face |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
1 |
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. |
Finding site |
True |
Bone structure of face |
Inferred relationship |
Some |
2 |
Repair of bone of face |
Procedure site - Direct (attribute) |
True |
Bone structure of face |
Inferred relationship |
Some |
1 |