Juberg-Hayward Syndrome - Symptoms, Diagnosis, and Treatment

Introduction

The syndrome was described by Juberg and Hayward in 1969. It is a rare autosomal recessive syndrome that causes multiple malformations. Juberg-Hayward syndrome is an extremely rare genetically inherited disorder.

What Are the Clinical Features of Juberg-Hayward Syndrome?

Juberg-Hayward syndrome is characterized by malformations of the head, face, and digits (fingers and toes). Major clinical features of the syndrome include:

• Cleft lip (a vertical groove in the upper lip).

• Cleft palate (a vertical groove inside the upper portion of the mouth).

• Microcephaly (an abnormally small head).

• Ocular hypertelorism (wide space between eyes).

• Hypoplasia or agenesis. (incomplete or no development of the thumbs and toes).

• Syndactyly (webbing of the toes).

• Stiff thumbs or thumbs located at an abnormal (higher or lower) position.

Some cases show malformations of certain skeletal bones. However, mental retardation is seen in most cases. The syndrome may lead to various types of cleft lip and palate malformations that are usually present at birth (congenital) which causes difficulty in speaking later on.

In severe cases, clefts usually involve the gums, lips, and hard and soft palates. However, in less severe cases, only one of these structures is involved. These clefts may be unilateral (one side) or bilateral (both sides).

In some cases, the following clinical features may also be present:

• Low birth weight.

• Horseshoe kidneys (kidneys that are joined at the base).

• The radius (outer bone of the forearm, when seen with the palm facing forward) may be abnormally short or dislocated.

• Elbows may be abnormally formed and may limit arm extension and mobility.

• Minor malformations of the spine, ribs, and certain bones in the hands (carpal bones).

What Are the Causes of Juberg-Hayward Syndrome?

Juberg-Hayward syndrome is an inherited genetic trait. However, autosomal dominant inheritance is being researched and has not been completely ruled out yet. Human disorders or traits are inherited from the interaction between two genes, one from the father and one from the mother.

In recessive disorders, the following features are seen:

• The disorder or condition does not appear in the progeny until the child inherits the same defective gene for the same trait from both parents.

• The child is a carrier of the disease if one normal gene and one gene for the disease are present but usually does not show any symptoms.

• The risk of the disease occurring in the child is 25 % when both parents are carriers of a recessive disorder.

• 50 % of the children risk being carriers of the disease but usually do not show symptoms of the disorder.

• 25 % of the children may receive both normal genes from each parent and be genetically normal.

• All pregnancies in a couple are prone to the above risk.

What Are the Other Disorders Related to Juberg-Hayward Syndrome?

The following disorders are related to Juberg-Hayward syndrome:

Craniofrontonasal dysplasia is a rare inherited autosomal dominant genetic trait that involves:

• Widely spaced eyes (ocular hypertelorism).

• Missing or grooved tip of the nose.

• Broad nasal bridge.

• Malformation of the sternum (a long flat bone found in the center of the chest).

• Unusually wide mouth.

• Webbed fingers and toes (syndactyly).

• Split nails and broad index finger.

• Malformed or dysplastic ears and a broad high forehead.

The oral-facial-digital syndrome is an extremely rare inherited disorder that can be divided into four subdivisions. Type I is inherited as an autosomal dominant genetic trait, whereas types II, III, and IV are inherited as autosomal recessive genetic conditions. The exact cause of the oral-facial-digital syndrome is still unknown.

Common symptoms present in all subdivisions include:

• Splits in the jaw.

• Split tongue.

• Broad nose.

• Cleft lip (groove in the upper lip).

• Polydactyly (extra fingers and toes).

• Unusually short fingers and toes.

• Epicanthal folds (an extra fold of skin on the side of the nose, including the corner of the eyes).

Frontofacionasal dysplasia is an inherited autosomal recessive disorder that causes:

• Cleft lip and palate.

• Broad nose.

• Cranium bifidum occultum (vertical groove down the tip of the nose or a nose that may be split in two and an abnormal, covered gap in the skull).

• Brachycephaly (short head).

• Microphthalmia (abnormally small eyeballs).

• Mild mental retardation.

• Ocular hypertelorism (unusual wide space between the eyes).

• Telecanthus (abnormally large distance between the upper and lower eyelids).

• The middle portion of the face is underdeveloped, like the forehead, nose, and chin.

Additional abnormalities include:

• Cranium bifidum occultum (an abnormal opening in the skull through which membranes that cover the brain may protrude).

• Lipomata fatty (tumor on the frontal lobe of the brain).

Frontonasal dysplasia is also called median cleft face syndrome. It is a very rare inherited disorder that causes:

• Widely spaced eyes.

• Broad nose.

• Vertical groove along the tip of the nose that may split in two, and an abnormal gap in the skull (cranium bifidum occultum).

• Short head (brachycephaly).

• Cleft lip and palate.

• Abnormally small eyeballs (microphthalmia).

• Mild mental retardation.

The exact cause of frontonasal dysplasia is still unknown, and most cases tend to occur sporadically (randomly with no apparent cause).

How Is Juberg-Hayward Syndrome Managed?

Juberg-Hayward Syndrome is generally diagnosed shortly after birth during the neonatal period depending on the complete clinical evaluation. Treatment of this syndrome is based on the specificity and severity of different cases. Surgery can be used to resolve craniofacial deformities associated with this syndrome. For instance, children with cleft lips may require surgery. However, sometimes additional surgery is performed when the child grows older. A cleft palate is also repaired or resolved surgically. In some individuals, hand and foot malformations associated with orocraniodigital syndrome can be corrected surgically. Generally, symptomatic and supportive treatment is provided to the individuals affected with this syndrome.

Conclusion

New clinical features have been observed in the patients include severe impairment of mental status. Recessive inheritance occurs commonly. However, occurrence of autosomal dominant inheritance has not been ruled out completely. Genetic counseling of parents of an affected child and of affected patients must be carried out properly as it can be beneficial for parents and families. A team is required for the management of infants and children with this syndrome, including special social, educational, and medical services, along with regular follow-up.