Syndrome manifested by cleft lip and anterior cleft
palate, microcephaly, mental retardation, hypertelorism, bifid uvula, and
absence of the nasal septal cartilage.
N.B: This is also known as holoprosencephaly type I. This medical condition
should not be confused with holoprosencephaly type II in which hypotelorism
and the possibility of cebocephaly (cyclopia) may be encountered.
Frontonasal Dysplasia Sequence; Median Cleft Face
Syndrome; DeMyer Syndrome; Holoprosencephaly Type I.
Rare; male-to-female ratio is 2:1; increased paternal
and maternal ages at the time of conception.
Most often a sporadic condition limited to the
face and head. A dominant form with associated spinal anomalies has been
reported; other reports suggest a multifactorial transmission. Translocation
involving chromosomes 3, 7, and 11 and four breakpoints have been reported
in one 4-year-old boy. For some unknown reason, instances of twinning are
greater in families with frontonasal dysplasia than in the general
Facial dysplasia with dysostosis (craniofacial
helix) and clefting. True or primary clefts are caused by the persistence of
epithelium between the borders of the facial processes (deficient epithelial
Clinical features (wide midline cleft of the facial
skeleton, hypertelorism of eyes, and possible coexisting severe deformity of
lower extremities) in conjunction with certain roentgenographic findings
(anterior cranium bifidum, hypoplastic frontal sinuses, dense calcification
of the falx, interhemispheric lipoma) and ophthalmologic examinations
(refractive errors, strabismus, nystagmus, and eyelid ptosis).
Facies: Frontonasal dysplasia; narrowing of palpebral
fissures; hypertelorism; broad nasal root; median nasal groove; absent nasal
tip; separated slit-like nares, bifid nose; widow's peak; strabismus;
nystagmus; eyelid ptosis. Skeleton: Tibial aplasia; hallucal polydactyly; varus
deformity; anterior cranium bifidum occultum. Other Anomalies: Median cleft palate;
encephalocele; duplication of labial frenulum; tetralogy of Fallot; mental
retardation (10-15% of patients). In severe cases, the central nervous
system may be affected, and there is a mental deficiency. The severity of
reported examples can be graded in a logical sequence. The patients may have
bifidity of the tip or dorsum of the nose, sometimes in association with a
median cleft lip or median notch of the cupid's bow and with a duplication
of the labial frenulum. Frontonasoethmoidal dysplasia and even
transsphenoidal encephalocele with pituitary herniation and orbital
hypertelorism are common. The maxilla may show a keel-shaped deformity with
rotation of the incisors. A median cleft of the palate may be observed, with
other anomalies including mental retardation.
Evaluate carefully for difficult laryngoscopy and
tracheal intubation. Physical examination directed primarily toward the
central nervous system, cardiovascular system (tetralogy of Fallot), lungs,
and upper airway. Standard preoperative laboratory examinations are
appropriate in most patients (blood chemistries, blood group, hemoglobin,
The potential for difficult direct
laryngoscopy and tracheal intubation is very high. It is important to
maintain spontaneous ventilation at all times, and other technical means of
airway management, such as laryngeal mask airway and fiberoptic airway equipment, must ...