cleft lip

Goldenhar Syndrome Spectrum

Clinical Characteristics
Ocular Features: 

There is considerable clinical heterogeneity in this syndrome.  Upper eyelid colobomas and ocular dermoids or lipdermoids are the primary ocular signs (lower lid colobomas are more common in Treacher Collins-Franceschetti syndrome [154500]).  The caruncles may be dysplastic, displaced or even bilobed.  Iris, optic nerve and chorioretinal colobomas also occur.  Microphthalmia is uncommon.  All ocular features are usually unilateral but are bilateral in a minority of cases.

Systemic Features: 

The facial asymmetry (hemifacial microsomia) can be a striking feature.  The side with microsomia may have a malformed external auricle, preauricular tags, pretragal fistulas, and microtia or even atresia of the external auditory canal.  A wide variety of other anomalies are often found including left lip and palate, mandibular hypoplasia, vertebral anomalies, facial nerve paralysis, congenital heart defects, and conductive hearing loss.  Mental deficits are often present along with features of the autism spectrum in 11%.

Genetics

Most cases are sporadic but other family patterns support autosomal recessive and autosomal dominant inheritance with the latter being the most common.  A locus at 14q32 has been associated with OAVS but so far no mutant gene has been identified.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Some patients benefit from scoliosis and cosmetic surgery.  Assistive hearing devices can be helpful and children especially should be monitored for physical and cognitive development.

References
Article Title: 

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients

Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venancio M, Ramos F, Sa J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M. Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients. Eur J Med Genet. 2015 Sep;58(9):455-65.

PubMed ID: 
26206081

Peters-Plus Syndrome

Clinical Characteristics
Ocular Features: 

Peters anomaly (306229) usually occurs as an isolated ocular malformation and is often unilateral.  However, in some patients with bilateral involvement it is part of a systemic syndrome or other congenital conditions such as chromosomal deletions and the fetal alcohol syndrome.  It is called Peters Plus syndrome in the condition described here because of the association of a specific combination of systemic features.

The ocular features are consistent with dysgenesis of the anterior chamber.  The clinical picture is highly variable but generally consists of iris adhesions to the cornea centrally (classical Peters anomaly), occasionally lenticular adhesions as well, and thinning of the central corneal stroma.  As a result, the cornea may become edematous, cataracts may develop, and glaucoma is common.

Systemic Features: 

Peters-plus syndrome consists of Peters anomaly plus various degrees of developmental delays and intellectual deficits, short digits and short stature, and cleft lip and palate.  The facies is said to be characteristic due to a prominent forehead, narrow palpebral fissures, and a cupid's bow-shaped upperlip. There may be preauricular pits present and the neck is often broad.  The ears may be prominent.  Congenital heart defects are present in a third of patients and a few have genitourinary anomalies.

Genetics

This is an autosomal recessive disorder of glycosylation caused by a mutation in the B3GALTL gene on chromosome 13 (13q12.3).  At least some patients have a splicing mutation in this gene leading to a skipping of exon 8.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

Treatment is directed at sight preservation by correcting the major ocular defects such as glaucoma and iridocorneal adhesions.  Corneal transplants and cataract removal are sometimes required.  Releasing the anterior synechiae can lead to significant clearing of the corneal edema.  Growth hormone replacement therapy may be beneficial.

References
Article Title: 

The Peters' plus syndrome: a review

Maillette de Buy Wenniger-Prick LJ, Hennekam RC. The Peters' plus syndrome: a review. Ann Genet. 2002 Apr-Jun;45(2):97-103. Review.

PubMed ID: 
12119218

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