A few relatively common syndromes are discussed briefly, without seeking to offer a complete explanation. You can find out more information from the team members at any time.

  1. Van der Woude syndrome
  2. Treacher Collins syndrome
  3. Hemifacial microsomy
  4. Crouzon syndrome
  5. Apert syndrome
  6. Stickler syndrome
  7. Shprintzen or velocardiofacial syndrome

1. Van der Woude syndrome

The combination of a cleft lip, alveolus and palate or just a cleft palate with small pits in the lower lip and often the absence of incisors and/or canines and possibly also premolars, is called Van der Woude syndrome. The small pits or (sinuses) have a small salivary gland at the bottom that makes a watery fluid come out of them. These pits are surgically removed.

2. Treacher Collins syndrome

Children with Treacher Collins syndrome have poorly developed facial bones. The syndrome is therefore also called mandibulofacial dysostosis. The lower jaw is very poorly developed and often causes breathing difficulties immediately after birth. The upper jaw and eye sockets also develop abnormally, so that the lateral attachment of the eyes is shifted downwards. There may also be abnormalities of the outer and inner ear. Hearing and sight must be optimised at an early stage where possible, because these children usually have normal intelligence.
One in three children with this syndrome have a cleft palate and one in three have a palate which is not cleft but still cannot close off the nasal cavity.

3. Hemifacial microsomy

This syndrome also involves poor development of the facial bones. Once again there is a problem with the lower jaw. Usually the part of the jawbone that extends upwards and the head of the joint are missing. This can cause breathing difficulties immediately after birth, particularly if the condition affects both sides (which it does in 10-30% of affected children). The upper jaw (zygomatic bone (cheekbone) and maxillary sinus) is also underdeveloped. The pinna or auricle (outer cartilage) of the ear is often misshapen and sometimes missing, as well as the cartilages in front of the ear. These children may also have conductive deafness due to a middle ear problem. They generally have normal intelligence, so the hearing loss must be identified and treated as early as possible.

Often there are also abnormalities in the neck vertebrae, which restrict head movements.

These children once again have a cleft palate and sometimes a cleft lip as well.

4. Crouzon syndrome

This syndrome is also called craniofacial dysostosis. The skull is often shortened front-to-back and widened, and the eyes protrude slightly from eye sockets which are relatively too small. This causes double vision and poor sight. The nose may have a hooked shape. A minority of these children also have a cleft lip, with or without a cleft palate.

5. Apert syndrome

This syndrome is also called acrocephalosyndactyly. The facial abnormality is an underdevelopment of the mid-face, with the eyes set too widely apart. As with Crouzon children, the skull is also shortened front-to-back. The fingers and toes have a typical fused appearance (syndactyly). These children sometimes have severe acne. Neck vertebrae may also be misshapen and growth is usually very limited. If there is a cleft it is usually a cleft palate (palatoschisis)

6. Stickler syndrome

These are children with a cleft palate and mandibular hypoplasia, with possible folding upwards of the tongue due to the cleft palate (these three signs are called the Pierre Robin sequence). This condition also causes eye problems (shortsightedness, chorioretinal degeneration, retinal detachment and cataract) and excessively loose joints (spondyloepiphyseal dysplasia). They also have hearing difficulties.

7. Shprintzen or velocardiofacial syndrome

This syndrome is caused by a defect in chromosome 22 (microdeletion on the long arm of chromosome 22, del22q11 syndrome).

The condition is characterised by a congenital heart abnormality, problems with the palate, an opening in the palate or poorly functioning palate muscles (which affects feeding and speech), normal ability with some learning difficulties or a - usually slight - mental retardation. There are currently about 260 individuals in Belgium with VCFS.

This summary only includes the syndromes that occur relatively more frequently and is not a complete list. You can find out more information from the members of the cleft lip and palate  team at any time.