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Results: 4

1.

Pyknodysostosis

Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K. [from MeSH]

MedGen UID:
116061
Concept ID:
C0238402
Disease or Syndrome
2.

Convex nasal ridge

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. [from HPO]

MedGen UID:
786052
Concept ID:
CN000415
Finding
3.

Blue sclerae

MedGen UID:
342813
Concept ID:
C1853175
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

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