1
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
3
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
4
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
5
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
6
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
7
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
8
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
9
|
(HPO:0000263)
|
Oxycephaly |
|
|
|
|
10 / 7739
|
10
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
11
|
(HPO:0000274)
|
Small face |
|
|
|
|
18 / 7739
|
12
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
13
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
14
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
15
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
16
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
17
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
18
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
19
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
20
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
21
|
(HPO:0001177)
|
Preaxial hand polydactyly |
|
|
|
|
59 / 7739
|
22
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
23
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
24
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
25
|
(HPO:0009816)
|
Lower limb undergrowth |
|
|
|
|
6 / 7739
|
26
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
27
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
28
|
(OMIM)
|
Flat facies |
|
|
|
|
5 / 7739
|
29
|
(OMIM)
|
Short neck with low hairline |
|
|
|
|
1 / 7739
|
30
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
31
|
(OMIM)
|
Broad thumbs and broad great toes |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Hypoplastic legs |
|
|
|
|
1 / 7739
|
33
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|