Dysosteosclerosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 80
OrphanetNr: 1782
OMIM Id: 224300
ICD-10: Q78.8
UMLs: C0432262
MeSH:
MedDRA:
Snomed: 254123002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0002688) Absent frontal sinuses 12 / 7739
2
 (HPO:0002007) Frontal bossing 366 / 7739
3
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
4
 (HPO:0000218) High palate 356 / 7739
5
 (HPO:0011220) Prominent forehead 137 / 7739
6
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
7
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
8
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
9
 (HPO:0002694) Sclerosis of skull base 10 / 7739
10
 (HPO:0000695) Natal tooth 42 / 7739
11
 (HPO:0000677) Oligodontia 41 / 7739
12
 (HPO:0000347) Micrognathia 426 / 7739
13
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
14
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
15
 (HPO:0006480) Premature loss of teeth 23 / 7739
16
 (HPO:0000311) Round face 104 / 7739
17
 (HPO:0005452) Obliteration of frontal sinuses 1 / 7739
18
 (HPO:0000242) Parietal bossing 11 / 7739
19
 (HPO:0007209) Facial paralysis 8 / 7739
20
 (HPO:0002689) Absent paranasal sinuses 4 / 7739
21
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
22
 (HPO:0000618) Blindness 124 / 7739
23
 (HPO:0000648) Optic atrophy 238 / 7739
24
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
25
 (HPO:0002376) Developmental regression 74 / 7739
26
 (HPO:0001291) Abnormality of the cranial nerves Very frequent [Orphanet] 27 / 7739
27
 (HPO:0001249) Intellectual disability 1089 / 7739
28
 (HPO:0001250) Seizures 1245 / 7739
29
 (HPO:0002870) Obstructive sleep apnea 16 / 7739
30
 (HPO:0011349) Abducens palsy 7 / 7739
31
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
32
 (HPO:0005019) Diaphyseal thickening 4 / 7739
33
 (HPO:0004054) Sclerosis of hand bone 1 / 7739
34
 (HPO:0000926) Platyspondyly 150 / 7739
35
 (HPO:0000941) Short diaphyses 3 / 7739
36
 (HPO:0002514) Cerebral calcification Very frequent [Orphanet] 89 / 7739
37
 (HPO:0008479) Hypoplastic vertebral bodies 12 / 7739
38
 (HPO:0000879) Short sternum 16 / 7739
39
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
40
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
41
 (HPO:0000773) Short ribs 70 / 7739
42
 (HPO:0005089) Abnormal metaphyseal trabeculation 3 / 7739
43
 (HPO:0003015) Flared metaphysis 44 / 7739
44
 (HPO:0006383) Progressive bowing of long bones 1 / 7739
45
 (HPO:0100670) Rough bone trabeculation Very frequent [Orphanet] 12 / 7739
46
 (HPO:0006429) Broad femoral neck 18 / 7739
47
 (HPO:0001474) Sclerotic scapulae 3 / 7739
48
 (HPO:0000774) Narrow chest 167 / 7739
49
 (HPO:0000938) Osteopenia 138 / 7739
50
 (HPO:0002868) Narrow iliac wings 15 / 7739
51
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
52
 (HPO:0000885) Broad ribs 21 / 7739
53
 (HPO:0100923) Clavicular sclerosis 3 / 7739
54
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
55
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
56
 (HPO:0003498) Disproportionate short stature 28 / 7739
57
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
58
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
59
 (HPO:0004334) Dermal atrophy 34 / 7739
60
 (HPO:0001629) Ventricular septal defect Very frequent [Orphanet] 316 / 7739
61
 (OMIM) Red-violet macular atrophy 1 / 7739
62
 (HPO:0030320) Increased intervertebral space 1 / 7739
63
 (OMIM) Widened intervertebral spaces 1 / 7739
64
 (OMIM) Pronounced anterior notches 1 / 7739
65
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
66
 (OMIM) Skull base sclerosis 1 / 7739
67
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
68
 (OMIM) Narrow chin 1 / 7739
69
 (OMIM) Sclerotic carpals 1 / 7739
70
 (OMIM) Epimetaphyseal sclerosis 1 / 7739
71
 (OMIM) Sclerotic clavicles 1 / 7739
72
 (OMIM) Short, thick sternum 1 / 7739
73
 (OMIM) Dense vertebral bodies 1 / 7739
74
 (OMIM) Short, widened ribs 1 / 7739
75
 (OMIM) Radiolucent metaphyses 1 / 7739
76
 (OMIM) Poorly calcified teeth 1 / 7739
77
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
78
 (OMIM) Periorbital sclerosis 1 / 7739
79
 (OMIM) Short, thick diaphyses 1 / 7739
80
 (OMIM) Sclerotic ribs 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: