Ablepharon-Macrostomy Syndrome (AMS) is an extremely rare hereditary disorder characterized by various physical abnormalities of the craniofacial region (head and face), skin, fingers and genitals. In addition, abnormalities of the nipples and abdominal wall are possible. Infants and children with AMS also have delayed language development and in some cases are intellectually disabled. The condition was originally described in 1977 by McCarthy and West in two unrelated male children. Surgery is often required in patients suffering from AMS syndrome.
- Epidemiology Ablepharon-Macrostomy Syndrome
- Causes and heredity of the disease
- Symptoms: Head, genitals, fingers
- Diagnosis and examinations
- Treatment of deviation
- Prognosis
Epidemiology Ablepharon-Macrostomy Syndrome
The incidence of AMS syndrome is <1/1 000 000. The condition was originally described in 1977 (McCarthy and West) in two unrelated male children. A few more isolated cases have now been recorded in the medical literature. Little information is known about the gender predilection, geography, and other characteristics of the syndrome.
Causes and heredity of the disease
The precise cause of Ablepharon-Macrostomy syndrome is unknown. According to researchers, the disease is inherited in an autosomal recessive manner. Certain studies point to an affected family in which the condition has proven to be autosomal dominant. Further research into this is therefore required.
Symptoms: Head, genitals, fingers
A whole range of symptoms are possible; However, they should not all be present at the same time.
- Intestine: Abdominal or ventral hernia: a piece of the large intestine protrudes into the abdominal wall.
- Genitalia: Ambiguous (male or female), underdeveloped or unusually small penis that is not properly positioned, undescended testicles (cryptorchidism) and/or absence of the scrotum in which the testicles are located, underdeveloped or absent nipples.
- Hair: Hair loss (alopecia), thin hair, soft/downy hair in infants is absent.
- Skin: The skin is dry, coarse, thin, wrinkled and often has extra folds, especially in the neck, hands, buttocks, knees, and/or feet.
- Intellectual: Sometimes normal, sometimes an intellectual disability.
- Mouth: Macrostomia: Very large mouth (fish-like mouth).
- Nose: Low bridge, small nose.
- Eyes:
- Ablepharon or microblepharon: No or underdeveloped eyelashes, no or underdeveloped eyebrows.
- Esotropia (inward strabismus with abnormal eye position)
- Corneal problems: Dried out or irritated cornea due to the eye blinking abnormally. This may lead to clouding of the cornea (vision loss).
- Strabismus: Strabismus
- Nystagmus: Medical term for “repetitive involuntary eye movements.”
- Retinal detachment
- Ears: External ear abnormalities, ears that are too small or underdeveloped, hearing loss.
- Skull: Zygomatic arches are absent.
- Language development: Delayed.
- Fingers: Short or partially missing, permanently bent, sometimes there is loss of function in a number of fingers.
Diagnosis and examinations
Medical geneticists and pediatricians make the diagnosis at or around birth. Ophthalmologists confirm the eyelid deformities.
Treatment of deviation
Multiple specialists
The treatment of this syndrome is multidisciplinary: dermatologists, urologists, ophthalmologists, gastroenterologists, surgeons, pediatricians, but also occupational therapists and/or other healthcare professionals.
CT-scan
Diagnosis of Ablepharon Macrostomy Syndrome is made at birth following a thorough clinical evaluation, identification of characteristic physical findings and/or through specialized imaging techniques. A CT scan is useful in demonstrating the missing zygomatic arch, improperly positioned jaws, and so on.
Ophthalmologists
Ophthalmologists examine eyelid deformities (ablepharon or microblepharon), detect eye abnormalities and provide appropriate preventive measures and/or prompt treatment.
Plastic surgery
Further treatment usually consists of plastic and reconstructive surgery. Plastic surgery corrects some facial and skin deformities. Surgery is required for descended testes or hernia. In some patients, surgery is performed to correct other eye abnormalities, finger abnormalities, certain skin abnormalities, external genitalia abnormalities, and/or ventral hernia.
Other treatments
Other treatments are symptomatic and supportive.
Prognosis
The lifespan in a patient with AMS syndrome is not shortened.
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