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Ablepharon macrostomia syndrome
- An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases).
- Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation.
- It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.
Incidence
How common is this condition?
<1 / 1000000
Inheritance
Autosomal dominant
Age of Onset
- Neonatal
- Antenatal
What are the symptoms of Ablepharon macrostomia syndrome?
Very Common Symptoms
- Ablepharon
- Absent eyebrow
- Absent eyelashes
- Delayed speech and language development
- Fine hair
- Hypoplasia of the zygomatic bone
- Microtia
- Redundant skin
- Sparse hair
- Underdeveloped nasal alae
- Wide mouth
Common Symptoms
- Abnormality of female external genitalia
- Ambiguous genitalia
- Anteverted nares
- Aplasia/Hypoplasia of the nipples
- Breast hypoplasia
- Camptodactyly of finger
- Corneal opacity
- Cryptophthalmos
- Dry skin
- Excessive wrinkled skin
- Global developmental delay
- Hearing impairment
- Hypoplasia of penis
- Hypoplasia of the maxilla
- Microdontia
- Myopia
- Thin skin
- Umbilical hernia
- Visual impairment
Occasional Symptoms
- Abnormal hair pattern
- Abnormality of skin pigmentation
- Atresia of the external auditory canal
- Corneal erosion
- Depressed nasal bridge
- Growth delay
- Omphalocele
- Thin vermilion border
- Toe syndactyly
- In a patient three-stage procedure was done to reconstruct the eyelids.
- Redundant skin from the retroauricular area was used to create full-thickness grafts.
- The child later underwent successful mouth reconstruction.
- Although developmentally delayed, the child was eventually able to sit unassisted, to grasp objects, and to follow light with some fixation. Nystagmus was severe.
- The retina was attached in one eye and detached in the other.
- Corneal opacities present initially improved in one eye, allowing a view of the pupil and a normal anterior chamber.
