Synonym(s): - Baraitser-Burn syndrome - OFD4 - Oral-facial-digital syndrome type 4
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease - Rare respiratory disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
TCTN3	Q6NUS6	613847

- Abnormal eye movements / oculomotor disorder
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Choanal atresia
- Cleft lip and palate
- Conductive deafness / hearing loss
- Flattened nose
- Genu varum
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Hypertelorism
- Hypoplastic mandibula / partial absence of the mandibula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Joint dislocation / subluxation
- Laryngomalacia
- Low set ears / posteriorly rotated ears
- Median cleft lip
- Mesomelic micromelia
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Oligoamnios
- Oral synechiae / abnormal frenulae
- Postaxial polydactyly (hand)
- Preaxial polydactyly (hand)
- Repeat respiratory infections
- Short stature / dwarfism / nanism
- Short / small nose
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Stillbirth / neonatal death
- Syndactyly of fingers / interdigital palm
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Complete claw hand / camptodactyly of all fingers
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Proptosis / exophthalmos

- Agenesis / hypoplasia / aplasia of kidneys
- Congenital cardiac anomaly / malformation / cardiopathy
- Cortico-adrenal hypoplasia / insufficiency
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Short philtrum
- Thin / hypoplastic toenails