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Results: 9

1.

Sclerosteosis

SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease; both are disorders of osteoblast hyperactivity. The major clinical features of sclerosteosis are progressive skeletal overgrowth and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Distinctive facial features including asymmetric mandibular hypertrophy, frontal bossing, and midface hypoplasia are usually apparent by mid-childhood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (often leading to facial palsy) and entrapment of the eighth cranial nerve (often resulting in deafness in mid-childhood). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent. Based on a few case reports, it is also likely that the spectrum of SOST-related sclerosing bone dysplasias includes an autosomal dominant form of craniodiaphyseal dysplasia (CDD). [from GeneReviews]

MedGen UID:
120530
Concept ID:
C0265301
Disease or Syndrome
2.

Sclerosteosis

MedGen UID:
797533
Concept ID:
CN203815
Disease or Syndrome
3.

High bone mass

MedGen UID:
356443
Concept ID:
C1866080
Finding
4.

Mass of body structure

In medicine, a lump in the body. It may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. A mass may be benign (not cancer) or malignant (cancer). [from NCI]

MedGen UID:
108287
Concept ID:
C0577559
Finding
5.

Sugar

A white crystalline carbohydrate, typically sucrose, used as a sweetener and preservative. [from NCI]

MedGen UID:
69157
Concept ID:
C0242209
Pharmacologic Substance
6.

Osteopenia

Decreased calcification or density of bone tissue. [from NCI]

MedGen UID:
18222
Concept ID:
C0029453
Pathologic Function
7.

Disorder of bone

Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D and exercise. . There are many kinds of bone problems:: - Low bone density and osteoporosis, which make your bones weak and more likely to break . - Osteogenesis imperfecta makes your bones brittle . - Paget's disease of bone makes them weak . - Bone disease can make bones easy to break . - Bones can also develop cancer and infections. - Other bone diseases are caused by poor nutrition, genetic factors or problems with the rate of bone growth or rebuilding. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
8.

Disorder of musculoskeletal system

condition in which there is a deviation from or interruption of the normal structure or function of any muscles, bones, or cartilages of the body. [from CRISP]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
9.

Metabolic bone disease

condition in which there is a deviation from or interruption of the normal metabolic pathways of bone. [from CRISP]

MedGen UID:
2699
Concept ID:
C0005944
Disease or Syndrome

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