Ablepharon-Macrostomia Syndrome (AMS)

Quantitative and qualitative defects in development of the prosencephalic neural crest. Fish-like facial (mouth) appearance. Other craniofacial anomalies include triangularly shaped face, small nose, partial absence of tissue (coloboma) from the midportion of nostril walls. Heart, kidney, and liver anomalies are present, especially in neonates. Other features include skin and genitalia anomalies, absent eyelids, alopecia totalis, camptodactyly. Infants and children with AMS show delayed language development and mental retardation.

AMS is an extremely rare congenital abnormality. Approximately six cases have been reported since McCarthy and West in 1977.

Cause of AMS is unknown. Some of the cases suggest AMS is inherited as an autosomal recessive genetic trait. Autosomal dominant inheritance is possible because of a postulated relationship to the disorder in monozygotic twins from consanguineous parents. It seems most likely that AMS is, in fact, a new mutation autosomal disorder. The gene implicated may be located on chromosome 18, where a deletion has been found.

Unknown.

Diagnosis is made based on the clinical aspect of the newborn. The disorder is characterized by absence or hypoplasia of the lower eyelids (ablepharon/microblepharon), eyebrows, and eyelashes. Other eye features include corneal opacifications, nystagmus, and cryptophthalmos. An association with absent zygomatic arches has been described. Fusion defects of the mouth result in macrostomia with a fish-like mouth. The nose often is hypoplastic. The nipples may be absent or rudimentary and the genitalia ambiguous. The skin shows ichthyotic changes and redundant skin folds. Mental retardation with delayed development of expressive language is common. The primary goal of surgical treatment is preserving the cornea by early postnatal treatment, early lid reconstruction, and use of lubricants.

Neonates should be carefully evaluated by echocardiography for associated heart, brain, or kidney abnormalities. In case of absent zygomatic arches, difficult airway management must be anticipated, especially with regard to tracheal intubation. Also evaluate for possible airway obstruction.

No anesthetic data about AMS and its anesthetic and pharmacological drug implications have been reported. The anesthesiologist must be aware of any associated abnormalities that will guide the choice of anesthetic technique and drugs. If a difficult tracheal intubation is anticipated, preservation of spontaneous ventilation is recommended until the airway is secured.

Barber-Say Syndrome: Hypertrichosis, atrophic skin, ectropion, macrostomia syndrome. Hypertelorism has been described. X-linked or autosomal dominant inheritance. Occasionally, cleft palate, primary hypospadias, shawl scrotum, and mild hearing loss are seen.

Ablepharon-Ichthyosis: Similar to AMS, with excessive skin wrinkling, hyperkeratosis, periorbital tumors/cysts, and scalp defects.