Primary bone dysplasia with increased bone density

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

Under the heading primary bone dysplasia with increased bone density , the following syndromes and diseases are listed in the Orphanet database :

• Camurati-Engelmann Syndrome
• Diaphyseal medullary stenosis - malignant bone tumors
• Stanescu type dysostosis
• Dysplasia, craniometadiaphyseal, cranial bone type
• Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome)
• Inclusion body myopathy with Paget's syndrome and frontotemporal dementia
• Endosteal sclerosis - cerebellar hypoplasia
• Mixed sclerosing bone dystrophy with extrasceletal manifestations
• Ghosal syndrome dysplasia, hematodiaphyseal, Ghosal type
• Günal-Seber-Başaran syndrome (dacryocystitis - osteopoikilosis)
• Hyperostosis cranialis interna
• hypertrophic primary osteoarthropathy
• Juvenile Paget's disease
• Craniodiaphyseal dysplasia
• Craniometaphyseal Dysplasia
• Lenz-Majewski syndrome (hyperostotic short stature type Lenz-Majewski)
• Metaphyseal dysplasia Braun-Tinschert type
• ODDD syndrome
• Osteogenesis imperfecta High bone mass
• Osteopetrosis
• Osteosclerosis - Ichthyosis - Premature Ovarian Failure
• Pyle syndrome
• Spastic paraplegia with Paget's syndrome
• Tricho-dento-osseous syndrome
• Van Buchem syndrome (hyperostosis corticalis generalisata)
• White Murphy Syndrome
• Worth syndrome (autosomal dominant osteosclerosis)
• X-linked hyperostosis of the skullcap

Clinical manifestations

A common feature of these skeletal dysplasias is an abnormally increased bone density ( osteosclerosis ). There further primary and secondary forms are listed.

Individual evidence

1. ↑ diaphyseal medullary stenosis - malignant bone tumors. In: Orphanet (Rare Disease Database).
2. ↑ Stanescu type dysostosis. In: Orphanet (Rare Disease Database).
3. ↑ Dysplasia, craniometadiaphyseal, cranial bone type. In: Orphanet (Rare Disease Database).
4. ↑ Hyperostosis corticalis, dysplastic. In: Orphanet (Rare Disease Database).
5. ↑ Inclusion body myopathy with Paget's syndrome and frontotemporal dementia. In: Orphanet (Rare Disease Database).
6. ↑ Endosteal sclerosis - cerebellar hypoplasia. In: Orphanet (Rare Disease Database).
7. ↑ Mixed sclerosing bone dystrophy with extrasceletal manifestations. In: Orphanet (Rare Disease Database).
8. ↑ Dysplasia, haematodiaphyseal, Ghosal type. In: Orphanet (Rare Disease Database).
9. ↑ Hyperostosis cranialis interna. In: Orphanet (Rare Disease Database).
10. ^ Paget syndrome, juvenile. In: Orphanet (Rare Disease Database).
11. ↑ Dysplasia, metaphyseal, Braun-Tinschert type. In: Orphanet (Rare Disease Database).
12. ↑ METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE.  In: Online Mendelian Inheritance in Man . (English)
13. ^ Okulo-dento-digital. In: Orphanet (Rare Disease Database).
14. ↑ Osteogenesis imperfecta High bone mass. In: Orphanet (Rare Disease Database).
15. ^ Osteosclerosis - ichthyosis - premature ovarian failure. In: Orphanet (Rare Disease Database).
16. ↑ Spastic paraplegia with Paget's syndrome. In: Orphanet (Rare Disease Database).
17. ↑ tricho-dento-osseous syndrome. In: Orphanet (Rare Disease Database).
18. ↑ Osteopathia striata - hyperpigmentation - white forelock. In: Orphanet (Rare Disease Database).
19. ↑ Osteosclerosis, autosomal dominant, Worth type. In: Orphanet (Rare Disease Database).
20. ↑ X-linked hyperostosis of the skullcap. In: Orphanet (Rare Disease Database).

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !