• Isolated cleft palate is associated with an underlying syndrome more frequently (as much as 50%) than cleft lip and palate. Stickler syndrome has been identified as the most common diagnosis causing both cleft palate and Robin sequence. Patients with Stickler syndrome demonstrate a collagen metabolism disorder. Relevant clinical findings include early myopia and an increased risk of retinal detachment which may go un-noticed early in life. It is recommended that infants with an isolated cleft of the secondary palate undergo formal ophthalmologic evaluation at some point during their first year of life. 

Apert Syndrome

  • Early fusion of cranial vault and cranial base sutures in the fetus causing growth restrictions in the midface and orbits
  • Midfacial deficiency
  • Cleft palate
  • Deafness
  • Developmental delay
  • Bilateral complex syndactyly of fingers and toes
  • All infants born with Apert syndrome demonstrate facial findings consistent with the other craniofacial dysostosis syndromes including craniosynostosis and total midfacial deficiency. In addition, patients with Apert syndrome have a high incidence of other anomalies including cleft palate, deafness, developmental – delay, bilateral complex syndactyly of the fingers and toes, and other skeletal anomalies.

Crouzon

  • Coronal suture most often affected

McCune Albright Syndrome

  • Hyperpigmentation, precocious menarche, endocrine disturbances (eg. hyperthyroidism), and polyostic fibrous dysplasia (expansions affecting multiple bones that radiographically appear as ground glass opacity)
  • Mild mental retartdation, obesity, round face, short stature
  • Elevated PTH and associated hypocalcemia, hyperphosphatemia, normal renal function

Nager Syndrome

  • Nager syndrome is characterized by radial limb hypoplasia, malar hypoplasia with down- slanting palpebral fissures, ear defects and occasionally a cleft palate

Stickler syndrome

  • Stickler syndrome, also known as Hereditary Arthro-Ophthalmopathy, consists of a flat facies with a short nose, epicanthal folds and anteverted nares, a cleft palate, spondyloepiphyseal dysplasia and high grade myopia.

Treacher Collins Syndrome

  • Autosomal dominant
  • Affects hard and soft tissue of 1st and 2nd brachial arches
  • Malar hypoplasia with clefting of zygomatic arch
  • Mandibular hypoplasia with condyle ramus anomalies
  • Apertognathia
  • Hearing loss
  • Patients with Treacher Collins Syndrome frequently require bone grafts for construction of missing and hypoplastic orbital-zygomatic structures. Early surgery should be avoided since ongoing orbital growth may make the surgical outcome less predictable. Orbital structures are almost their adult size by approximately age 7. This makes late childhood the ideal time for construction of orbital and zygomatic components. If surgical correction of the orbital-zygomatic deformity is undertaken during infancy or early childhood, then subsequent growth may adversely effect the outcome. 
  • Treacher Collins Syndrome is an autosomal dominant disorder affecting the hard and soft tissues of the 1st and 2nd branchial arches. It is commonly associated with a number of findings including malar hypoplasia with clefting of the zygomatic arches, mandibular hypoplasia with condyle-ramus anomalies, apertognathia, and hearing loss.
  • Children with Treacher Collins Syndrome require multiple stages of skeletal reconstruction which include repair of the orbitozygomatic deformities and definitive orthognathic surgery. Reconstruction of the orbital hypoplasia and missing zygomatic arches is typically undertaken with the use of cranial bone grafts. Whenever possible, orbitozygomatic reconstruction should be delayed until the orbital structures themselves are at or approaching skeletal maturity. By seven years of age, the cranio-orbitozygomatic skeleton is almost completely done growing. This makes late childhood the ideal time for construction of orbital and zygomatic components. If surgical correction of the orbital-zygomatic deformity is undertaken during infancy or early childhood, then subsequent growth may adversely effect the outcome.

van der Woude syndrome

  • van der Woude syndrome can be caused by deletions in chromosome band 1q32, and linkage analysis has confirmed this chromosomal locus as the disease gene site. van der Woude syndrome is an autosomal dominant syndrome typically consisting of a cleft lip or cleft palate and distinctive pits of the lower lips. The degree to which individuals carrying the gene are affected is widely variable, even within families. These variable manifestations include lip pits alone, absent teeth, or isolated cleft lip and palate of varying degrees of severity. 
  • Van der Woude syndrome displays an autosomal dominant pattern of inheritance and consists of lower lip pits and clefts of the lip and/or palate.

Velocardiofacial Syndrome

  • Velocardiofacial syndrome was first described by Shprintzen and colleagues in 1978 as a syndrome comprising clefts of the palate either overt or submucous, congenital heart defects, typical facies and learning difficulties. The hypernasal speech and bifid uvula are suggestive of a submucous cleft palate, which is a feature of the syndrome.