Synonym(s): - Franceschetti-Klein syndrome - Mandibulofacial dysostosis without limb anomalies
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		External references: 3 OMIM references - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
POLR1C	O15160	610060
POLR1D	Q9Y2S0	613715
TCOF1	Q13428	606847

- Autosomal dominant inheritance
- Bone / osseous hypoplasia
- Dental malocclusion
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Facial dysmorphism
- Flat cheek bones / malar hypoplasia
- Hypoplastic mandibula / partial absence of the mandibula
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Small face
- Structural anomalies of middle ear / ossicles / tympanic cavity

- Absent / decreased lashes
- Anodontia / oligodontia / hypodontia
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Broad nasal root
- Coloboma of the eyelid
- Conductive deafness / hearing loss
- External auditory canal atresia / stenosis / agenesis
- Frontal bossing / prominent forehead
- Low hair line-front
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Strabismus / squint
- Visual loss / blindness / amblyopia

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Adrenal glands anomalies
- Anomalies of spine, vertebrae and pelvis
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal recessive inheritance
- Brachycephaly / flat occiput
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Cataract / lens opacification
- Choanal atresia
- Cleft lip
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Dystonia / torticollis / writer's cramp / blepharospasms
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Enamel anomaly
- Encephalocele / exencephaly
- Enchondroses
- Facial cleft
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Glossoptosis
- Hair and scalp anomalies
- High vaulted / narrow palate
- Hypertelorism
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Limited opening of the mouth
- Macrostomia / big mouth
- Micropenis / small penis / agenesis
- Patent ductus arteriosus
- Preauricular / branchial tags / appendages
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thymic aplasia / hypoplasia
- Tooth shape anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Undescended / ectopic testes / cryptorchidia / unfixed testes