1
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
2
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
3
|
(HPO:0011001)
|
Increased bone mineral density |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
4
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
5
|
(HPO:0000308)
|
Microretrognathia |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
6
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
7
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
8
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
9
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
11
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
12
|
(HPO:0000829)
|
Hypoparathyroidism |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
13
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
14
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
15
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
16
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
17
|
(HPO:0003072)
|
Hypercalcemia |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
18
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
19
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
20
|
(HPO:0100530)
|
Abnormality of calcium-phosphate metabolism |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
21
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
22
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
23
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
24
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
25
|
(HPO:0000692)
|
Misalignment of teeth |
|
|
|
|
18 / 7739
|
26
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
27
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
28
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
|
|
43 / 7739
|
29
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
30
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
31
|
(HPO:0002737)
|
Thick skull base |
|
|
|
|
3 / 7739
|
32
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
33
|
(HPO:0003021)
|
Metaphyseal cupping |
|
|
|
|
16 / 7739
|
34
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
35
|
(HPO:0003109)
|
Hyperphosphaturia |
|
|
|
|
18 / 7739
|
36
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
37
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
38
|
(HPO:0004676)
|
Prominent supraorbital arches in adult |
|
|
|
|
1 / 7739
|
39
|
(HPO:0005871)
|
Metaphyseal chondrodysplasia |
|
|
|
|
10 / 7739
|
40
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
41
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
42
|
(HPO:0100759)
|
Clubbing of fingers |
|
|
|
|
40 / 7739
|
43
|
(OMIM)
|
Severe short stature, postnatal onset |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Average adult height 125cm |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Mild frontonasal hyperplasia in adult |
|
|
|
|
1 / 7739
|
46
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
47
|
(OMIM)
|
Mandibular cyst |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Bowing of long bones, especially lower limb |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Markedly expanded cup-shaped metaphyses, infancy |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Short, mildly broad diaphyses |
|
|
|
|
1 / 7739
|
51
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
52
|
(OMIM)
|
Short, clubbed fingers |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Increased urinary excretion of cAMP |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Elevated 1,25(OH)2 D3 |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Parathyroid hormone (PTH) absent to low |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Parathyroid hormone-related peptide (PTHrP) absent to low |
|
|
|
|
1 / 7739
|
57
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
58
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
59
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|