Affected patients present a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet. [abcam.com]

He is Executive Advisory Editor of Bone Research (2013-present). [books.google.it]

At the beginning, he presented intermittent right side facial muscle paralysis and jaw pain. [surgicalneurologyint.com]

Presents the work of many new contributors for fresh perspectives on the current state of pediatric endocrinology. Provides new tables of normal values and growth charts for monitoring your patients progress. [books.google.com]

• Pain

  The clinical consequence of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurological pain, and, very rarely, blindness as a consequence of optic atrophy. [abcam.com]

  “Before a lot of us participated in these projects, very little about pain itself was known,” he said. [news.com.au]

  Some patients have crises of pain of variable duration (hours-weeks); 58% have pain to bone percussion. [elsevier.es]

• Anemia

  […] nermann type Chondrodysplasia punctata, MT type Chondrodysplasia punctata, X-linked dominant type Chondrodysplasia punctata, X-linked recessive type Craniodiaphyseal dysplasia Dappled diaphyseal dysplasia Diaphyseal dysplasia Diaphyseal dysplasia with anemia [icd9data.com]

  In other cases, transfusions to treat anemia and splenectomy to increase platelets may be recommended. Depending on the form of sclerosing bone dysplasia, treatment to correct hematologic issues may not be effective. [encyclopedia.com]

  There may be spontaneous bleeding with anemia and recurrent infections. The neurological complications are blindness and deafness. Patients usually die in the first decade of life. [elsevier.es]

  Generalized increase in density and thickness of the skull base is seen in fibrous dysplasia, Paget disease, anemias, fluorosis, hypothyroidism, hyperparathyroidism, hypervitaminosis D, idiopathic hypercalcemia, healing rickets, and some syndromes. [rrnursingschool.biz]

  Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci USA. 2001;98:5734–5739. [CrossRef] [PubMed] 26 Papaioannou M, Ocaka L, Bessant D, et al. [iovs.arvojournals.org]

• Turkish

  In a small Turkish family with sclerosteosis, we identified a missense mutation (c.499T>C; p.Cys167Arg) in exon 2 of the SOST gene. [ncbi.nlm.nih.gov]

  In a small Turkish family with sclerosteosis, we identified a missense mutation (c.500T>C; p.Cys167Arg) in exon 2 of the SOST gene. [hal.archives-ouvertes.fr]

  S Görar, G Koç, Z Üç, D Dellal, Z Candan, C Çulha, Y Aral Turkish Journal of Endocrinology & Metabolism 15 (1), 2011 1 2011 [scholar.google.com.tr]

• Surgical Procedure

  Some individuals pursue exploratory tympanotomy, stapedotomy, placement of a total ossicular reconstruction prosthesis, cochlear implantation, insertion of a Wehr's prosthesis, decompression, and other surgical procedures. [encyclopedia.com]

  A generous bilateral bifrontotemporal decompressive craniectomy was then performed to treat the symptoms of raised ICP that improved after the surgical procedure [ Figure 3 ]. [surgicalneurologyint.com]

• Nail Abnormality

  People with sclerosteosis may also have absent or malformed nails. Van Buchem disease represents the milder form of the disorder. People with van Buchem disease are typically of average height and do not have syndactyly or nail abnormalities. [ghr.nlm.nih.gov]

• Prognathism

  Gene LRP4 gene, 11p11.2 (OMIM gene/locus number *604270 ) Phenotype Syndactyly/brachyphalangy with nail dysplasia, increased stature, increased head circumference, facial asymmetry due to facial nerve palsy, frontal bossing, prognathism, hearing loss, [iofbonehealth.org]

  The face is peculiar, with a prognathic squared mandible, dental malocclusion, prominent forehead, broad and flat nasal bridge, and hypertelorism. [rrnursingschool.biz]

• Hirsutism

  Endocrine 47 (1), 198-205, 2014 30 2014 Comparison of the clinical efficacy of flutamide and spironolactone plus ethinyloestradiol/cyproterone acetate in the treatment of hirsutism: a randomised controlled study F Karakurt, I Sahin, S Güler, B Demirbas [scholar.google.com.tr]

• Arthralgia

  Pterygium Limited elbow extension Increased body weight Hyperinsulinemic hypoglycemia Akinesia Poor suck Trigonocephaly Adducted thumb Chorioretinal coloboma Microretrognathia Short palpebral fissure Fetal akinesia sequence Hyperventilation High myopia Arthralgia [mendelian.co]

• Hearing Impairment

  Most common symptoms of HYPEROSTOSIS CORTICALIS GENERALISATA Autosomal recessive inheritance Hearing impairment Sensorineural hearing impairment Optic atrophy Mandibular prognathia More info about HYPEROSTOSIS CORTICALIS GENERALISATA SOURCES: OMIM UMLS [mendelian.co]

  impairment Deafness Hearing defect [ more ] 0000365 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Increased intracranial pressure Rise in pressure inside skull 0002516 Malar flattening Zygomatic flattening 0000272 Mandibular prognathia [rarediseases.info.nih.gov]

  impairment, dental issues, short stature, and neurologic symptoms. [encyclopedia.com]

• Frontal Bossing

  Gene LRP4 gene, 11p11.2 (OMIM gene/locus number *604270 ) Phenotype Syndactyly/brachyphalangy with nail dysplasia, increased stature, increased head circumference, facial asymmetry due to facial nerve palsy, frontal bossing, prognathism, hearing loss, [iofbonehealth.org]

  bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure. [orpha.net]

  Diseases related with Frontal bossing and Esotropia In the following list you will find some of the most common rare diseases related to Frontal bossing and Esotropia that can help you solving undiagnosed cases. [mendelian.co]

• Hypertelorism

  Gene LRP4 gene, 11p11.2 (OMIM gene/locus number *604270 ) Phenotype Syndactyly/brachyphalangy with nail dysplasia, increased stature, increased head circumference, facial asymmetry due to facial nerve palsy, frontal bossing, prognathism, hearing loss, hypertelorism [iofbonehealth.org]

  JOUBERT SYNDROME 2; JBTS2 Is also known as cerebellooculorenal syndrome 2;cors2 Related symptoms: Autosomal recessive inheritance Intellectual disability Global developmental delay Generalized hypotonia Hypertelorism SOURCES: UMLS DOID GARD OMIM MESH [mendelian.co]

  (From Marden and Wippold 2004) lar hypertelorism is common. [rrnursingschool.biz]

• Broad Nasal Bridge

  These individuals bear a striking resemblance with a broad nasal bridge, long-appearing palpebral fissures, a broad nasal tip, a short nose, a long philtrum, a thin and wide upper lip, full cheeks, and large fleshy ear lobes. [iofbonehealth.org]

  bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal [rarediseases.info.nih.gov]

  Sclerosteosis is characterized by tall stature, overgrowth of the nasal and facial bones, broad, flat nasal bridge, wide-spaced eyes (hypertelorism), and minor hand malformation, such as finger fusion (syndactyly). [encyclopedia.com]

• Headache

  The individual might also have frequent headaches. Sclerosteosis 2 is caused by a changed (mutated) SOST2 gene. Genes are inherited in pairs, one from the mother and one from the father. [diseaseinfosearch.org]

  Headache Classification Subcommittee of the International Headache Society: The International Classification of Headache Disorders. Cephalgia. 2004. 24: 9-160 15. Hofmeyr LM, Hamersma H. [surgicalneurologyint.com]

  The symptoms of petrous apex lesions include headaches, facial pain, facial numbness, weakness of mastication, pulsating tinnitus, hearing loss, dizziness, vertigo and facial nerve paralysis and more. [lmhofmeyr.co.za]

  Headaches 0002315 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Increased intracranial pressure Rise in pressure inside skull 0002516 Malar flattening Zygomatic flattening [rarediseases.info.nih.gov]

  By middle age, skull pressure often causes incurable headaches, even suden death. Chiroscience worked with Dr. Peter Beighton of the University of Cape Town to study the genes of a small group of Afrikaners with sclerosteosis. [cbsnews.com]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Surgery is also available as a treatment option. If you or a family member has been diagnosed with sclerosteosis 2, talk with your doctor about the most current treatment options. [diseaseinfosearch.org]

CONCLUSION The treatment of the TN secondary to hyperostosis and resistant to medications presents a dilemma. [surgicalneurologyint.com]

Prognosis The prognosis for individuals affected by sclerosing bone dysplasia varies greatly depending upon the type of sclerosing bone dysplasia and severity of symptoms. [encyclopedia.com]

In the symptomatic TN, also called secondary, an etiology for the symptoms is identified. [surgicalneurologyint.com]

Current aspects of etiology, diagnosis and therapy in otosclerosis. Otolaryng Pol 2011 ; 65 : 162 –70 25 Perez, R, de Almeida, J, Nedzelski, JM, Chen, JM. [cambridge.org]

[…] endocrinology 19 (3), 115-124, 2004 45 2004 Adiponectin is an independent determinant of insulin resistance in women with polycystic ovary syndrome NE Gulcelik, Y Aral, R Serter, Y Demir, C Çulha Gynecological endocrinology 22 (9), 511-515, 2006 36 2006 Etiology [scholar.google.com.tr]

The etiology of the disease is associated with mutations in the LEMD3 gene. 33 In Van Buchem disease there is an asymmetric enlargement of the jaw during puberty. There are not fractures but it can be pain to the percussion of long bones. [elsevier.es]

Understanding the etiology of Stargardt’s disease. Ophthalmol Clin North Am. 2002;15:93–100. [CrossRef] [PubMed] 30 Koenekoop RK. The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review. [iovs.arvojournals.org]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.it]

Relevant External Links for SOST Genetic Association Database (GAD) SOST Human Genome Epidemiology (HuGE) Navigator SOST Atlas of Genetics and Cytogenetics in Oncology and Haematology: SOST No data available for Genatlas for SOST Gene Bone dysplasia sclerosteosis [genecards.org]

Epidemiology and outcomes of osteoporotic fractures. Lancet 2002 ;359: 1761 - 1767 2. NIH Consensus Development Panel on Osteoporosis Prevention, Diagnosis, and Therapy. Osteoporosis prevention, diagnosis, and therapy. JAMA 2001 ;285: 785 - 795 3. [nejm.org]

The epidemiology of osteoporotic fractures reflects the importance of age and sex in the pathogenesis of the disease. [clinicalgate.com]

Sclerosteosis: neurogenic and pathophysiologic analysis of an American kinship. Neurology 1983 ; 33 : 267 –77 3 Beighton, PH, Hamersma, H, Brunkow, ME. SOST-related sclerosing bone dysplasias. [cambridge.org]

The role of sclerostin in the pathophysiology of sclerosing bone dysplasias. Clin Rev Bone Miner Metab. 2012a;10:108–16. CrossRef Google Scholar van Lierop AH, van der Eerden AW, Hamdy NA, et al. [link.springer.com]

Cranial affection occurs in 38% of cases and can be manifested by atrophy of the optic nerve, glaucoma, subluxation of the eyeball, sensorineural or conductive hearing loss in 15%. 12 The pathophysiology of this lesions is based on nerve compression or [elsevier.es]

Sclerosteosis: Neurogenetic and pathophysiologic analysis of an American kinship. Neurology. 1983. 33: 267-77 29. Sugiura Y, Yasuhara T. Sclerosteosis: A case report. J Bone Surg Am. 1975. 57: 273-6 30. [surgicalneurologyint.com]

Though the precise function and working of SOST remains unknown, an inhibitory effect on bone formation can be proposed since pathophysiological analysis indicated that sclerosteosis is primarily a disorder of increased formation of normal bone ( 7 ). [academic.oup.com]

The SOST2 gene is responsible for making sclerostin, a protein that normally functions in preventing bone formation. [diseaseinfosearch.org]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

The effects of exercise on the prevention of the postmenopausal symptoms have been discussed and accepted[ 12 ]. [ncbi.nlm.nih.gov]

Heterozygous mutations located in the secretion signal of the SOST gene prevent sclerostin secretion and can be responsible for craniodiaphyseal dysplasia. [genecards.org]