Hallerman-Streiff Syndrome Congenital disorder that affects growth, cranial development, hair growth and dental development. Etiology: May be associated with gene GJA1. Most cases occur randomly with no other affected family members due to spontaneous mutation. Those with Hallerman-Streiff Syndrome can pass on this mutation to their offspring with a 50% chance. There have been reports of this syndrome passed on as a recessive condition. Diagnosis: Diagnosis occurs shortly after birth from clinical observations. There are fewer than 200 cases worldwide. Associated Systemic and Medical conditions: The face of an individual with Hallerman-Streiff Syndrome presents with a thin, tapered, pinched nose and small chin. The head is small with a large prominent forehead, small jaw and mouth. Hair is sparse with the skin of the scalp being thin, taut with visible scalp veins. During early childbirth, complications can arise due to narrowing of air passages. Persons with Hallerman-Streiff Syndrome may have difficulty breathing and eating. Frequently patients present with obstructive sleep apnea as well as heart defects. Patients may also present with clouded lenses or cataracts ,which may lead to blindness. Short stature is seen in approximately half of these individuals. Mental impairment is seen about 30% of the time. Dental needs or special considerations: Patients are at increased risk of breathing difficulties when given general anesthetic prior to surgery. These persons can present with teeth at birth or supernumerary teeth. Underdeveloped tooth enamel and a high rate of caries are common. Absence, malformation or misalignment of teeth is typical.
Monday, April 4, 2011
Hallerman-Streiff Syndrome
Hallerman-Streiff Syndrome Congenital disorder that affects growth, cranial development, hair growth and dental development. Etiology: May be associated with gene GJA1. Most cases occur randomly with no other affected family members due to spontaneous mutation. Those with Hallerman-Streiff Syndrome can pass on this mutation to their offspring with a 50% chance. There have been reports of this syndrome passed on as a recessive condition. Diagnosis: Diagnosis occurs shortly after birth from clinical observations. There are fewer than 200 cases worldwide. Associated Systemic and Medical conditions: The face of an individual with Hallerman-Streiff Syndrome presents with a thin, tapered, pinched nose and small chin. The head is small with a large prominent forehead, small jaw and mouth. Hair is sparse with the skin of the scalp being thin, taut with visible scalp veins. During early childbirth, complications can arise due to narrowing of air passages. Persons with Hallerman-Streiff Syndrome may have difficulty breathing and eating. Frequently patients present with obstructive sleep apnea as well as heart defects. Patients may also present with clouded lenses or cataracts ,which may lead to blindness. Short stature is seen in approximately half of these individuals. Mental impairment is seen about 30% of the time. Dental needs or special considerations: Patients are at increased risk of breathing difficulties when given general anesthetic prior to surgery. These persons can present with teeth at birth or supernumerary teeth. Underdeveloped tooth enamel and a high rate of caries are common. Absence, malformation or misalignment of teeth is typical.
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