Zimmermann Laband Syndrome, a rare autosomal dominant genetic disorder, is abnormalities of the face, head, feet, and hands. The disease is caused by a mutation in the ATP6V1B2 gene on chromosome 8p21 or a mutation in the KCNH1 gene on chromosome 1q32. It affects individuals who are of Eastern Indian ancestry from India and the West Indies and also individuals from European descent. Zimmermann Laband Syndrome is inherited as an autosomal dominant trait, but also may exist as an autosomal recessive trait. This disease is genetic and can only be inherited. Scientist have also found a gene on chromosome three that may cause some cases of Laband syndrome.
Symptoms Zimmermann Laband Syndrome are absent nails, hypoplasia of the distal phalanges, scoliosis, hirsutism, hepatosplenomegaly, gingival fibromatosis, abnormalities of the cartilage of the nose or ears, individuals are dysplastic, and individuals may be …show more content…
X-ray of the digits, examination of the nose, ears, lips, and tongue, and gingival fibromatosis may all confirm that the individual has Zimmermann Laband Syndrome.
The treatment for Zimmermann Laband Syndrome depends on the symptoms of the individual. The irregularities of the teeth may be fixed by a dentist or orthodontist. Skeletal abnormalities can be treated by orthopedic surgeons or other healthcare professionals. The gum abnormalities can be treated by excision or can be prevented by proper care. Epilepsy may occur in individuals who have gingival fibromatosis and can be treated with drugs that control seizure activity. Individuals may seek genetic counseling for support and special services to help with their inabilities.
Zimmermann Laband Syndrome is an extremely rare disorder that is only passed on by inheritance. It occurs in one in a million births. Less than 50 cases have been reported. It is rare because individuals may not reproduce because of sexual selection in the
Symptoms Zimmermann Laband Syndrome are absent nails, hypoplasia of the distal phalanges, scoliosis, hirsutism, hepatosplenomegaly, gingival fibromatosis, abnormalities of the cartilage of the nose or ears, individuals are dysplastic, and individuals may be …show more content…
X-ray of the digits, examination of the nose, ears, lips, and tongue, and gingival fibromatosis may all confirm that the individual has Zimmermann Laband Syndrome.
The treatment for Zimmermann Laband Syndrome depends on the symptoms of the individual. The irregularities of the teeth may be fixed by a dentist or orthodontist. Skeletal abnormalities can be treated by orthopedic surgeons or other healthcare professionals. The gum abnormalities can be treated by excision or can be prevented by proper care. Epilepsy may occur in individuals who have gingival fibromatosis and can be treated with drugs that control seizure activity. Individuals may seek genetic counseling for support and special services to help with their inabilities.
Zimmermann Laband Syndrome is an extremely rare disorder that is only passed on by inheritance. It occurs in one in a million births. Less than 50 cases have been reported. It is rare because individuals may not reproduce because of sexual selection in the