Laband Syndrome - Causes, Symptoms, and Treatment

Introduction

Laband syndrome, also called the Zimmerman-Laband syndrome, is one of the most extremely rare genetic disorders. It is a congenital disease characterized by various head and facial abnormalities significantly affecting the intraoral region and also causing abnormalities in the hands and feet. It is an autosomal dominant genetic condition with numerous systemic involvements and a variety of clinical manifestations.. In some cases, it may cause mental retardation. According to the patient's symptoms and the severity of the condition, this condition is managed. This article will discuss the Laband syndrome and its clinical presentation in detail.

What Causes Laband Syndrome?

Usually a genetic disorder occurs when there is a harmful change to the gene (DNA material) or when there is the presence of wrong genetic material. The disease gets two mutated or altered genes from each of the parents. Usually, most cases of Laband syndrome are an autosomal dominant inherited disorder. Dominant inheritance develops with a single copy of the mutated gene sufficient to cause the disease in the child. It could be caused either by inheriting the altered gene or by new changes in the child's gene. The probability of passing down the abnormal gene from the affected parent is 50 percent in each pregnancy, regardless of the gender of the child. Recessive inheritance cases have also been documented. The exact nature of the mutated gene in the child is not yet known, however, various research is ongoing in determining the nature of the defective gene.

What Are the Symptoms of Laband Syndrome?

Symptoms of Laband syndrome start to occur at the newborn stage of the child (four weeks after birth). The Laband syndrome has a diverse clinical presentation that affects various systems of the body. The extent and severity of the condition vary with each individual. But the most commonly seen symptom of Laband syndrome is the presence of gingival fibromatosis.

Commonly noted clinical presentations of Laband syndrome are:

• Gingival Fibromatosis: This condition is also called idiopathic gingival hyperplasia. The commonly associated symptom of Laband syndrome is gingival fibromatosis with presence of local or diffuse excessive gingival enlargement. The eruption of both temporary and permanent teeth may be delayed or prevented by gingival enlargement, which can also lead to other issues like an increase in dental plaque buildup, biofilm-induced gum disease, periodontal pocket formation, dental caries, and bad breath. This condition may affect the ability to speak, chew and swallow.

• Aplasia of the Fingernail: Infants with this condition are born with either a deformed or absence of fingernails.

• Cardiovascular Malformations: Some infants are born with abnormalities of the cardiovascular system with any structural anomalies of the heart and the greater vessels of the heart.

• Cleft Palate: Some infants are born with a condition called cleft palate that causes an opening or splitting on the roof of the mouth (palate), which occurs due to the improper fusion of the palatine bone during embryonic development.

• Cataract: the clear eye lens becomes clouded.

• Bulbous Nose: Infants are born with increased volume and a ball-shaped tip of the nose.

• Anterior Open Bite: Patients with this condition are born with malocclusion, where the upper and lower back teeth are in contact while the anterior portion of the teeth doesn't come in contact while trying to bite.

• Gracile Bones: Infants are born with skeletal abnormalities, with bones more slender than normal.

• There may be a delay in the affected child's growth.

• Abnormal increase in the size of the liver and spleen.

• Excessive dryness of the mouth.

• Hyperextensibility of the joints.

• Large, thick external ears.

• Abnormalities of the external genitalia.

• Increased and excessive hair growth in the facial region.

• Developmental abnormalities of the lower jawbone.

• Seizures.

• Mental retardation.

How Is Laband Syndrome Diagnosed?

A multidisciplinary team approach can speed up the diagnostic process. The clinician performs a detailed history and a thorough physical examination of the child.

• The doctor performs various specialized tests. The doctor may refer the child to various specialists to evaluate the developing symptoms. Laband syndrome is one of the rarest diseases therefore, it might be difficult to diagnose the condition.

• The doctor may perform radiologic investigations to assess the patients. An X-ray might be taken to look for any abnormalities in the hands or feet, growth of the mandible (lower jawbone), abnormal curvature of the upper back, asymmetry of the limbs, and to look for degenerative changes of the vertebral bone.

What Is the Treatment and Management of Laband Syndrome?

Treatment and management of Laband syndrome require a multidisciplinary team approach in which various doctors and concerned specialists work together to manage the symptoms of the patients. The primary aim of the treatment plan is to manage the symptoms of the patients which are apparent.

• The doctor may refer the child to a dentist or orthodontist to correct the abnormalities and irregularities of the teeth.

• Infants with skeletal deformities are referred to orthopedists to correct the structural abnormalities.

• Infants are referred to a periodontist for treating the abnormality of the gum region and other supporting structures of the teeth. Maintaining proper oral hygiene can prevent the progression of gingival fibromatosis. The excessive gingival growth is generally removed through surgical excision. However, there might be a recurrence of the gum condition.

• Early diagnosis and immediate treatment for the disease are important in preventing hepatomegaly and splenomegaly (Abnormal enlargement of the liver and spleen).

• Infants are referred to a neurologist to manage and treat conditions affecting the nervous system.

• Some infants have the symptoms of a seizure, especially in patients with gingival fibromatosis. These patients are treated with anticonvulsant drugs.

• The infant and the family may be referred to genetic counseling.

• Other therapies, such as physical therapy, speech therapy, and patient and family education regarding the disease, may be given to the patient.

Conclusion

Zimmerman-Laband syndrome is an uncommon genetic condition with varied clinical presentations involving multiple systems of the body. It is an autosomal dominant condition. Management of this condition requires symptomatic and supportive care. The prominent symptom of this syndrome is gingival fibromatosis which is an excessive gingival enlargement causing various complications such as delay in eruption of teeth, gingivitis and periodontitis, etc. This rare condition is managed through a multidisciplinary treatment approach.