Epidemiology of Holoprosencephaly and Single-Stage Lip and the Columella Reconstruction

Holoprosencephaly is a very rare disorder of embryological development (SHH,ZIC2,SIX3,TGIF mutations) that presents usually with a midline cleft lip and agenesis of the columella. The incidence has been estimated at approximately 1 in 15,000. Previously, infants with severe holoprosencephaly were thought to die within 0.5 - 2 years of birth and seldom to benefit from surgery. Survival has increased with improved perinatal care and support services. The reconstruction of a median cleft with agenesis of the columella is a challenge in that there is an extensive skin and underlining structural deficiency both in the central part of the lip, as well of the columella.

Facial Cleft Deformity Clinic register of congenital abnormalities was used to identify reported cases of holoprosencephaly between 1983 and 2013. University of Pretoria, the largest facial cleft deformity unit in Africa, is one of the IAOMS Training Fellowship Centre.

 The present data of holoprosencephaly was analyzed and single-stage lip and congenital agenesis of the columella reconstruction to be presented. The Cronin-modification reconstruction is suitable in cases, where the median cleft lip has already been closed.

Fifty-five cases of holoprosencephaly are found among 3789 cases of Facial Cleft Deformity Clinic (Table). The prevalence is 1.45% and male to female ratio is 1 : 3.2. 55 holoprosencephaly cases are 3(5.5%) White Caucasians, 46(83.6%) Africans, 3(5.5%) Cape Cultured, 3(5.5%) Indian Caucasians and no Asian Mongoloid were recorded. Fifty-two cases (94.5%) had a complete agenesis of the columella. Six cases were reconstructed and a surprising projective nasal-midfacial growth was documented in four reconstructed cases. In addition one case was reconstructed during the fellowship training.

Total cases	CL	CLA	CLAP	hP	hPsP	sP	COMBI
Clinic                      3789	219	517	1487	32	628	698	155
Holoprosecephaly   55	-	35*	19	-	-	-	-

(CL=Cleft Lip; CLA=Cleft Lip-Alveolus; CLAP=Cleft Lip-Alveolus-Palate; hP=hard palate; hPsP=hard+soft palate; COMBI=Combination cleft - eg. CL+sP, without hP) (*One case had only an agenesis of the columella).

Up to date seven cases, all with a median cleft lip and agenesis of the columella, underwent a single stage median cleft lip reconstruction and the creation of a columella by means of an internal nasal dorsal skin flap procedure.  

BÜTOW K-W.Construction of the congenitally missing columella in midline clefts. J Craniomaxillofac Surg: 35: 287–292, 2007

COHEN MM Jr. An update on the holoprosencephalicdisorders. J Pediatr: 101: 865–869, 1982