Aglossia-adactylia syndrome


Aglossia-adactylia syndrome

Description, Causes and Risk Factors:

Aglossia adactylia is characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations. It was first described in 1932, but in 1950 Hanhart described three cases of aglossia with associated limb defects and gave his name to the syndrome.

The etiology is unknown but in spite of the extreme variability of the clinical manifestation, a dominant mutant gene cannot be ruled out.

aglossia-adactylia syndrome

The exact cause of Aglossia-adactylia syndrome is not known. Cases tend to occur randomly, with no apparent cause (sporadic). Some researchers believe that the disorder, which has been reported in the children of blood relatives (consanguinity) in a number of cases, may be inherited as an autosomal recessive genetic trait.

Some clinicians theorized that the defect in development responsible for Aglossia-adactylia syndrome may occur when there is an interruption of the necessary blood supply to the parts of the embryo that eventually develop into the arms, legs, hands, and feet (the limb buds); the tongue; the mouth and jaw area (Meckel's cartilage); and, possibly in some cases, parts of the brain. It is projected that a clot has formed within a blood vessel (thrombus) or has traveled through the blood stream and become lodged in a vessel (embolus) is responsible for the interruption of blood flow. Such a clot may result from exposure of the embryo to certain drugs taken during pregnancy that decrease blood flow (hypoperfusion) through particular organs or a clot could result from the death of another embryo in the uterus that was originally formed from the same fertilized egg (discordant monozygotic twins).

Aglossia-adactylia syndrome is a very rare developmental disorder that affects males and females in equal numbers. Fewer than 1 in 20,000 children are affected with this disorder.

Symptoms:

The following symptoms are very frequently seen in Aglossia-adactylia syndrome:

    Microstomia (small mouth).

  • Absent foot.

  • Micrognathia/retrognathia (small jaw, and deeply receding jaw).

  • Partial absence of mandible.

  • High vaulted/narrow palate.

  • Terminal hypoplasia of fingers (Incomplete or missing fingers).

  • Terminal hypoplasia of toes (Incomplete or missing toes).

  • Oligodactyly/adactyly (missing fingers).

  • Upper limb-transverse elements missing.

  • Thin, hypoplastic hyperconvex fingernails.

Diagnosis:

Diagnosis includes medical and laboratory examinations including clinical tests to determine the enzyme tyrosine aminotransferase in the body.

Treatment:

Because early recognition of Aglossia-adactylia syndrome can lead to early diagnosis and treatment, education of nurses in perinatal, paediatric, midwifery, and neonatal specialties is crucial.Nurses can offer anticipatory guidance and provide resources to parents of children with this condition.

The treatment of Aglossia-adactylia syndrome requires the coordinated efforts of a team of specialists. Pediatricians, plastic and orthopedic surgeons, dental specialists, speech pathologists, physical therapists, and others must systematically and comprehensively plan the child's treatment.

Treatment is supportive and will include physical, psychological and educational resources:

    Infants sometimes require special bottles or feeding tubes to maintain sufficient nutrition.

  • Children with Aglossia-adactylia syndrome usually benefit from physical and speech therapy to improve their gross motor skills and coordination, and to gain better control over speaking and eating.

  • Occupational and sensory integration therapies are also beneficial.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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