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Results: 1 to 20 of 45

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.

Increased bone mineral density

An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. [from HPO]

MedGen UID:
451275
Concept ID:
CN116733
Finding
4.

Bone density increased

A finding indicating an increased density of minerals in the bones. Causes include osteopetrosis and Paget disease. [from NCI]

MedGen UID:
215128
Concept ID:
C1141880
Finding
5.

Pelizaeus-Merzbacher disease

PLP1-related disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Female carriers may manifest mild to moderate signs of the disease. [from GeneReviews]

MedGen UID:
61440
Concept ID:
C0205711
Disease or Syndrome
6.

hearing impairment

A general term for the complete or partial loss of the ability to hear from one or both ears. [from MeSH]

MedGen UID:
235586
Concept ID:
C1384666
Finding
7.

Atrophy

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [from MeSH]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
8.

Sclerosis

hardening of the tissue [from CHV]

MedGen UID:
48587
Concept ID:
C0036429
Pathologic Function
9.

Osteoporosis

Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. Risk factors include : - Getting older . - Being small and thin . - Having a family history of osteoporosis. - Taking certain medicines. - Being a white or Asian woman. - Having osteopenia, which is low bone density. Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise and do not smoke. If needed, medicines can also help. . NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
10.

Hyperostosis

Increase in the mass of bone per unit volume. [from MeSH]

MedGen UID:
9366
Concept ID:
C0020492
Disease or Syndrome
11.

Hyperostosis corticalis generalisata

MedGen UID:
797375
Concept ID:
CN204413
Disease or Syndrome
12.

Osteoporosis

MedGen UID:
776590
Concept ID:
C2911643
Finding
13.

Visual Suppression

MedGen UID:
526147
Concept ID:
C0221103
Pathologic Function
14.

Thickened

MedGen UID:
525976
Concept ID:
C0205400
Finding
15.

Hyperostosis

Excessive growth or abnormal thickening of bone tissue. [from HPO]

MedGen UID:
506537
Concept ID:
CN117664
Finding
16.

Facial palsy

Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. [from HPO]

MedGen UID:
506391
Concept ID:
CN009454
Finding
17.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
18.

Error occurred: cannot get document summary

ID:
489942

19.

Height / growth measure

The height of a person while standing. [from NCI]

MedGen UID:
452503
Concept ID:
C0424639
Finding
20.

Hearing impairment

A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605). [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding

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