Bencze syndrome

MedGen UID:: 330655
•Concept ID:: C1841640
•: Disease or Syndrome

Synonyms:	Hemifacial hyperplasia strabismus; HEMIFACIAL HYPERPLASIA WITH STRABISMUS
SNOMED CT:	Hemifacial hyperplasia strabismus syndrome (733046006); Bencze syndrome (733046006)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0007711
OMIM®:	141350
Orphanet:	ORPHA1241

Definition

A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. [from SNOMEDCT_US]

Clinical features

From HPO

Submucous cleft hard palate

MedGen UID:: 98472
•Concept ID:: C0432103
•: Congenital Abnormality

Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.

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Hemifacial hypertrophy

MedGen UID:: 452987
•Concept ID:: C1399354
•: Disease or Syndrome

The criteria for the hemifacial type of congenital hypertrophy are (1) unilateral enlargement of the viscerocranium bounded superiorly by the frontal bone (not including the eye), inferiorly by the inferior border of the mandible, medially by the midline of the face, and laterally by the ear, the pinna being included within the hypertropic area, and (2) enlargement of all tissues--teeth, bone, and soft tissue--within this area (Rowe, 1962).

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Amblyopia

MedGen UID:: 8009
•Concept ID:: C0002418
•: Disease or Syndrome

Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.

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Strabismus

MedGen UID:: 21337
•Concept ID:: C0038379
•: Disease or Syndrome

A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

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