Marble bone disease

Marble bone disease2017-04-24T13:17:54+00:00

Marble bone disease

Marble bone disease is a genetic condition characterized by the formation of very hard dense bone.  Sclerosteosis is the variant seen in South Africa and patients present with recurrent facial nerve palsies in childhood, hearing loss and abnormalities of the toes and fingers. Diagnosis is confirmed on X ray. There is currently no cure for this condition. Hearing aids are usually indicated for the hearing loss. Surgery may correct the abnormal bone growth of the ear and the hearing loss. Early surgical decompression of the inner ear canal can prevent future facial nerve weakness and hearing loss. Dr Hofmeyr successfully manages numerous of these patients.

100_0828If your child suffers from Bell’s palsy and facial nerve weakness, and especially when there is recurrence of the facial nerve weakness and abnormal fingers or toes a diagnosis of Marble bone disease should be considered.

Marble bone disease is a genetic condition characterized by the formation of very hard dense boneSclerosteosis is the variant seen in South Africa and is related to Van Buchem’s disease inherited in a recessive way from our Dutch ancestors. Affected patients have a dysfunctional SOST gene located on chromosome 17 and lack the ability to produce enough functional sclerostin. Sclerostin is a glycoprotein necessary for bone remodulation. Without sclerostin bone growth increases and bone become very hard, compressing nerves and other structures.

Prof Herman Hamersma diagnosed the first patient with sclerosteosis in 1958 and since then 78 patients have been diagnosed in South Africa. Dr Hofmeyr has worked in close relation with Dr Hamersma in the last couple of years and has taken over the surgical management of these patients. Patients present with recurrent facial nerve palsies in childhood, hearing loss and abnormalities of the toes and fingers. All the bones in the body are affected. Diagnosis can be made on X ray. For detail evaluation of the skull computed tomography(CT) is the examination of choice.

There is currently no cure for this condition. Hearing aids are usually indicated for the hearing loss. Surgery may correct the abnormal bone growth of the ear and the hearing loss. Early surgical decompression of the inner ear canal can prevent future facial nerve weakness and hearing loss. Continues ongoing research into the SOST gene and sclerostin may proof beneficial in the management of osteoporosis.

sclerosteosis

Marble bone disease is characterized by the formation of very hard dense bone

CT scan of the skull of a patient with sclerosteosis

Computed tomography (CT) scan of the skull of a patient with sclerosteosis

Research in sclerosteosis.

Contacts for Marble bone disease and sclerosteosis Genetic Testing

CAPE TOWN

Mrs Frieda Loubser
Cape Town Genetic Counselling
BSc Hons (Genetics), US
MSc Genetic Counselling, UCT
HPCSA Registered Genetic Counsellor
e: frieda.loubser@gmail.com
t: 083 225 4289
w: www.geneticcounselling.co.za

PRETORIA AND JOHANNESBURG

Genetic councelling: 011 678 5969
Suretha Erasmus  
Selfoon nommer:  082 375 1118
Epos: suretha@geneticcounselling.co.za

Noelene Kinsley      
Selfoon nommer:  082 547 5720
Epos: noelene@geneticcounselling.co.za