Pycnodysostosis

General Information (adopted from Orphanet):

Synonyms, Signs: PKND
PYCD
pyknodysostosis
Number of Symptoms 74
OrphanetNr: 763
OMIM Id: 265800
ICD-10: Q78.8
UMLs:
MeSH: D058631
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.13 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal disease
 -Rare genetic disease
Osteopetrosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0006335) Persistence of primary teeth 12 / 7739
2
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
3
 (HPO:0000668) Hypodontia 81 / 7739
4
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
5
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
6
 (HPO:0000680) Delayed eruption of primary teeth 10 / 7739
7
 (HPO:0002645) Wormian bones Frequent [Orphanet] 65 / 7739
8
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
9
 (HPO:0004474) Persistent open anterior fontanelle 4 / 7739
10
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
11
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
12
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
13
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
14
 (HPO:0000347) Micrognathia 426 / 7739
15
 (HPO:0000269) Prominent occiput 43 / 7739
16
 (HPO:0000189) Narrow palate 45 / 7739
17
 (HPO:0000696) Delayed eruption of permanent teeth 12 / 7739
18
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
19
 (HPO:0000448) Prominent nose 56 / 7739
20
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
21
 (HPO:0002688) Absent frontal sinuses 12 / 7739
22
 (HPO:0000670) Carious teeth 145 / 7739
23
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
24
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
25
 (HPO:0000592) Blue sclerae Frequent [Orphanet] 85 / 7739
26
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
27
 (HPO:0003307) Hyperlordosis Occasional [Orphanet] 122 / 7739
28
 (HPO:0003302) Spondylolisthesis 14 / 7739
29
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
30
 (HPO:0011867) Abnormality of the wing of the ilium Occasional [Orphanet] 123 / 7739
31
 (HPO:0002653) Bone pain Frequent [Orphanet] 75 / 7739
32
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
33
 (HPO:0003304) Spondylolysis 11 / 7739
34
 (HPO:0011001) Increased bone mineral density 78 / 7739
35
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
36
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
37
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
38
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
39
 (HPO:0009839) Osteolytic defects of the distal phalanges of the hand 6 / 7739
40
 (HPO:0000774) Narrow chest Occasional [Orphanet] 167 / 7739
41
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
42
 (HPO:0000765) Abnormality of the thorax 64 / 7739
43
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
44
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
45
 (HPO:0003468) Abnormality of the vertebrae Very frequent [Orphanet] 77 / 7739
46
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
47
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
48
 (HPO:0002754) Osteomyelitis Occasional [Orphanet] 37 / 7739
49
 (HPO:0002650) Scoliosis 705 / 7739
50
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
51
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
52
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
53
 (HPO:0001807) Ridged nail 20 / 7739
54
 (HPO:0001597) Abnormality of the nail Occasional [Orphanet] 115 / 7739
55
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
56
 (HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739
57
 (HPO:0000951) Abnormality of the skin Occasional [Orphanet] 147 / 7739
58
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
59
 (HPO:0002793) Abnormal pattern of respiration Occasional [Orphanet] 26 / 7739
60
 (OMIM) Aplasia of clavicle 2 / 7739
61
 (OMIM) Hypoplasia of clavicle 1 / 7739
62
 (OMIM) Wrinkled skin over dorsa of fingers 1 / 7739
63
 (OMIM) Adult height less than 150 cm 1 / 7739
64
 (MedDRA:10072883) Brachydactyly 153 / 7739
65
 (OMIM) Flattened nails 1 / 7739
66
 (OMIM) Frontal and occipital prominence 1 / 7739
67
 (OMIM) Obtuse angle to mandible 1 / 7739
68
 (OMIM) Susceptibility to fracture 1 / 7739
69
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
70
 (OMIM) Dense skull 1 / 7739
71
 (OMIM) Delayed suture closure 1 / 7739
72
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
73
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
74
 (OMIM) Narrow ilia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The features of pycnodysostosis are deformity of the skull (including wide sutures), maxilla and phalanges (acroosteolysis), osteosclerosis, and fragility of bone. The disorder was first described and named by Maroteaux and Lamy (1962). Andren et al. (1962) simultaneously ...
Molecular genetics OMIM Because cathepsin K (601105), a cysteine protease gene that is highly expressed in osteoclasts, maps to the same region as pycnodysostosis, Gelb et al. (1996) searched for mutations in the cathepsin K gene. They identified nonsense, missense, and ...