Osteopathia striata - cranial sclerosis

General Information (adopted from Orphanet):

Synonyms, Signs: OSCS
Robinow-Unger syndrome
hyperostosis generalisata with striations
Number of Symptoms 118
OrphanetNr: 2780
OMIM Id: 300373
ICD-10: Q78.8
UMLs: C0432268
MeSH: C536053
MedDRA:
Snomed: 254129003

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: X-linked dominant
[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:0000003) Multicystic kidney dysplasia Rare [HPO] 17 / 7739
2
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
3
 (HPO:0100880) Nephrogenic rest 3 / 7739
4
 (HPO:0000689) Dental malocclusion 114 / 7739
5
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
6
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
7
 (HPO:0010628) Facial palsy Occasional [Orphanet] 146 / 7739
8
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
9
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
10
 (HPO:0000201) Pierre-Robin sequence 20 / 7739
11
 (HPO:0006784) Paranasal sinus hypoplasia 1 / 7739
12
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
13
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
14
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
15
 (HPO:0002694) Sclerosis of skull base 10 / 7739
16
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
17
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
18
 (HPO:0000341) Narrow forehead 96 / 7739
19
 (HPO:0000193) Bifid uvula 66 / 7739
20
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
21
 (HPO:0000316) Hypertelorism 644 / 7739
22
 (HPO:0000218) High palate 15% [HPO:skoehler] 356 / 7739
23
 (HPO:0000347) Micrognathia 426 / 7739
24
 (HPO:0000215) Thick upper lip vermilion 17 / 7739
25
 (HPO:0000175) Cleft palate 349 / 7739
26
 (HPO:0000465) Webbed neck 81 / 7739
27
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
28
 (HPO:0000204) Cleft upper lip 193 / 7739
29
 (HPO:0000678) Dental crowding 65 / 7739
30
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
31
 (HPO:0012471) Thick vermilion border 115 / 7739
32
 (HPO:0000695) Natal tooth 42 / 7739
33
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
34
 (HPO:0002684) Thickened calvaria 32 / 7739
35
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
36
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
37
 (HPO:0000369) Low-set ears 372 / 7739
38
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
39
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
40
 (HPO:0000396) Overfolded helix 21 / 7739
41
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
42
 (HPO:0008551) Microtia 98 / 7739
43
 (HPO:0002315) Headache occasional [HPO:skoehler] 175 / 7739
44
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
45
 (HPO:0001256) Intellectual disability, mild frequent [HPO:skoehler] 141 / 7739
46
 (HPO:0001250) Seizures 1245 / 7739
47
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
48
 (HPO:0000750) Delayed speech and language development occasional [HPO:skoehler] 197 / 7739
49
 (HPO:0006610) Wide intermamillary distance 46 / 7739
50
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
51
 (HPO:0006587) Straight clavicles 3 / 7739
52
 (HPO:0001371) Flexion contracture 220 / 7739
53
 (HPO:0002990) Fibular aplasia 16 / 7739
54
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
55
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
56
 (HPO:0000885) Broad ribs 21 / 7739
57
 (HPO:0001555) Asymmetry of the thorax Occasional [Orphanet] 15 / 7739
58
 (HPO:0005464) Craniofacial osteosclerosis 3 / 7739
59
 (HPO:0012385) Camptodactyly 113 / 7739
60
 (HPO:0010740) Osteopathia striata 3 / 7739
61
 (HPO:0003038) Fibular hypoplasia 30 / 7739
62
 (HPO:0003307) Hyperlordosis Occasional [Orphanet] 122 / 7739
63
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
64
 (HPO:0001166) Arachnodactyly 62 / 7739
65
 (HPO:0005830) Flexion contracture of toe 9 / 7739
66
 (HPO:0000767) Pectus excavatum 244 / 7739
67
 (HPO:0002650) Scoliosis Frequent [Orphanet] 23% [HPO:skoehler] 705 / 7739
68
 (HPO:0009473) Joint contracture of the hand 84 / 7739
69
 (HPO:0005619) Thoracolumbar kyphosis 8 / 7739
70
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
71
 (HPO:0001762) Talipes equinovarus 309 / 7739
72
 (HPO:0100670) Rough bone trabeculation Very frequent [Orphanet] 12 / 7739
73
 (HPO:0100490) Camptodactyly of finger 212 / 7739
74
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
75
 (HPO:0001562) Oligohydramnios 75 / 7739
76
 (HPO:0001561) Polyhydramnios 191 / 7739
77
 (HPO:0002566) Intestinal malrotation 89 / 7739
78
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
79
 (HPO:0002023) Anal atresia Rare [HPO:skoehler] 135 / 7739
80
 (HPO:0001537) Umbilical hernia 206 / 7739
81
 (HPO:0001539) Omphalocele Rare [HPO] 102 / 7739
82
 (HPO:0002025) Anal stenosis Rare [HPO:skoehler] 23 / 7739
83
 (HPO:0001508) Failure to thrive 454 / 7739
84
 (HPO:0001510) Growth delay 295 / 7739
85
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
86
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
87
 (HPO:0001631) Atria septal defect 274 / 7739
88
 (HPO:0001629) Ventricular septal defect 316 / 7739
89
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
90
 (HPO:0002779) Tracheomalacia 26 / 7739
91
 (HPO:0005950) Laryngeal web 5 / 7739
92
 (HPO:0001611) Nasal speech 48 / 7739
93
 (HPO:0002104) Apnea 106 / 7739
94
 (HPO:0001252) Muscular hypotonia 990 / 7739
95
 (HPO:0010547) Muscle flaccidity 466 / 7739
96
 (HPO:0001324) Muscle weakness 859 / 7739
97
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
98
 (OMIM) Widened suture 4 / 7739
99
 (HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
100
 (OMIM) Occipital bossing 2 / 7739
101
 (OMIM) Sclerotic cranial base 1 / 7739
102
 (OMIM) Mental retardation, mild-moderate 6 / 7739
103
 (OMIM) Duplicate phalanges 1 / 7739
104
 (OMIM) Broad, flat ribs 1 / 7739
105
 (OMIM) Transitional facial palsy (15%) 1 / 7739
106
 (OMIM) Cranial sclerosis 1 / 7739
107
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
108
 (OMIM) Sclerotic mastoids (31%) 1 / 7739
109
 (OMIM) Trapezoidal shaped skull 1 / 7739
110
 (OMIM) Long, straight clavicles 1 / 7739
111
 (HPO:0000238) Hydrocephalus 278 / 7739
112
 (OMIM) Broad medial and lateral clavicles 1 / 7739
113
 (MedDRA:10023871) Laryngeal web 2 / 7739
114
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
115
 (OMIM) Nemaline myopathy (in 1 reported male) 1 / 7739
116
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
117
 (OMIM) Spatulate distal phalanges 2 / 7739
118
 (OMIM) Increased trabecular thickness seen on iliac bone biopsy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of ...
Clinical Description OMIM Fairbank (1951) was one of the first to describe the clinical combination of osteopathia stria and cranial sclerosis. Walker (1969) and Jones and Mulcahy (1968) reported affected females.

Winter et al. (1980) observed osteopathia striata with ...
Genotype-Phenotype Correlations OMIM Jenkins et al. (2009) suggested a putative genotype/phenotype correlation for OSCS: mutations producing a WTXS1 isoform with an intact phosphatidylinositol (4,5)-bisphosphate binding domain and APC-binding domain-1 resulted in survival of males, whereas mutations causing truncation of WTXS1 5-prime ...
Molecular genetics OMIM Jenkins et al. (2009) identified a female proband with severe hyperostosis of the skull and appendicular skeleton, marked developmental delay, and seizures. The skeletal phenotype was consistent with OSCS. DNA analysis revealed a de novo deletion greater than ...