Lethal osteosclerotic bone dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL
RNS
Raine syndrome
Number of Symptoms 93
OrphanetNr: 1832
OMIM Id: 259775
ICD-10: Q78.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 families [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Neonatal osteosclerotic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
4
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
5
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
6
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
7
 (HPO:0004322) Short stature 1232 / 7739
8
 (HPO:0002148) Hypophosphatemia 43 / 7739
9
 (HPO:0010808) Protruding tongue 28 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
12
 (HPO:0006487) Bowing of the long bones rare [HPO:skoehler] 95 / 7739
13
 (HPO:0001847) Long hallux rare [HPO:skoehler] 13 / 7739
14
 (HPO:0001156) Brachydactyly syndrome rare [HPO:skoehler] 180 / 7739
15
 (HPO:0002804) Arthrogryposis multiplex congenita rare [HPO:skoehler] 93 / 7739
16
 (HPO:0005684) Distal arthrogryposis 31 / 7739
17
 (HPO:0002983) Micromelia rare [HPO:skoehler] 130 / 7739
18
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
19
 (HPO:0000347) Micrognathia 426 / 7739
20
 (HPO:0000308) Microretrognathia Frequent [Orphanet] 78 / 7739
21
 (HPO:0000303) Mandibular prognathia rare [HPO:skoehler] 179 / 7739
22
 (HPO:0000248) Brachycephaly 222 / 7739
23
 (HPO:0000244) Brachyturricephaly 9 / 7739
24
 (HPO:0001357) Plagiocephaly rare [HPO:skoehler] 106 / 7739
25
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
26
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
27
 (HPO:0000767) Pectus excavatum rare [HPO:skoehler] 244 / 7739
28
 (HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
29
 (HPO:0001591) Bell-shaped thorax Very frequent [Orphanet] 35 / 7739
30
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
31
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
32
 (HPO:0003422) Vertebral segmentation defect 95 / 7739
33
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
34
 (HPO:0005789) Generalized osteosclerosis 10 / 7739
35
 (HPO:0002553) Highly arched eyebrow rare [HPO:skoehler] 92 / 7739
36
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
37
 (HPO:0000272) Malar flattening 277 / 7739
38
 (HPO:0011800) Midface retrusion 221 / 7739
39
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
40
 (HPO:0000212) Gingival overgrowth 43 / 7739
41
 (HPO:0000175) Cleft palate 349 / 7739
42
 (HPO:0000218) High palate 356 / 7739
43
 (HPO:0000164) Abnormality of the teeth 291 / 7739
44
 (HPO:0006297) Hypoplasia of dental enamel rare [HPO:skoehler] 64 / 7739
45
 (HPO:0000691) Microdontia rare [HPO:skoehler] 104 / 7739
46
 (HPO:0000695) Natal tooth Occasional [HPO:probinson] 42 / 7739
47
 (HPO:0002263) Exaggerated cupid's bow Very frequent [Orphanet] 15 / 7739
48
 (HPO:0000160) Narrow mouth 188 / 7739
49
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
50
 (HPO:0000154) Wide mouth rare [HPO:skoehler] 137 / 7739
51
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
52
 (HPO:0000453) Choanal atresia 76 / 7739
53
 (HPO:0000452) Choanal stenosis 23 / 7739
54
 (HPO:0005280) Depressed nasal bridge 381 / 7739
55
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
56
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
57
 (HPO:0000410) Mixed hearing impairment Occasional [HPO:probinson] 22 / 7739
58
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
59
 (HPO:0000377) Abnormality of the pinna 111 / 7739
60
 (HPO:0000369) Low-set ears 372 / 7739
61
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
62
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
63
 (HPO:0009904) Prominent ear helix 8 / 7739
64
 (HPO:0000411) Protruding ear rare [HPO:skoehler] 140 / 7739
65
 (HPO:0000126) Hydronephrosis rare [HPO:skoehler] 119 / 7739
66
 (HPO:0002514) Cerebral calcification 89 / 7739
67
 (HPO:0005671) Bilateral intracranial calcifications 9 / 7739
68
 (HPO:0005849) Diffuse cerebral calcification 9 / 7739
69
 (HPO:0001371) Flexion contracture 220 / 7739
70
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
71
 (HPO:0001334) Communicating hydrocephalus 32 / 7739
72
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
73
 (HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 7739
74
 (HPO:0003811) Neonatal death 44 / 7739
75
 (MedDRA:10072883) Brachydactyly 153 / 7739
76
 (OMIM) 'Fishlike' facies 1 / 7739
77
 (OMIM) Absence of ossification of sacrum (rare) 1 / 7739
78
 (OMIM) Absence of ossification of vertebral bodies C3 to C5 (rare) 1 / 7739
79
 (OMIM) Bulbous fingertips (in some patients) 1 / 7739
80
 (OMIM) Choanal atresia/stenosis 1 / 7739
81
 (OMIM) Craniofacial dysplasia 1 / 7739
82
 (OMIM) Decreased tubular resorption of phosphate (in some patients) 1 / 7739
83
 (OMIM) Double renal pelvis (in some patients) 1 / 7739
84
 (OMIM) Hydroureter, bilateral (in some patients) 1 / 7739
85
 (OMIM) Large protruding tongue 1 / 7739
86
 (OMIM) Low circulating phosphate 1 / 7739
87
 (OMIM) Microscrotum (in some patients) 1 / 7739
88
 (OMIM) Multiple fracture-like rib lesions 1 / 7739
89
 (OMIM) Renal cortex calcification (in some patients) 1 / 7739
90
 (OMIM) Self-stimulating behavior (in some patients) 1 / 7739
91
 (OMIM) Short limbs 17 / 7739
92
 (OMIM) Stenotic ostia of ureters (in some patients) 1 / 7739
93
 (OMIM) Thick fingers (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Raine syndrome is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show ...
Clinical Description OMIM Kan and Kozlowski (1992) described the postmortem findings in an infant with generalized osteosclerosis and craniofacial dysplasia representing a lethal syndrome identical to that previously reported in single cases by Raine et al. (1989) and Kingston et al. ...
Molecular genetics OMIM Simpson et al. (2007) identified an unusual chromosome 7 rearrangement and microdeletion in a patient with Raine syndrome and subsequently identified homozygous or compound heterozygous mutations in the FAM20C gene (611061.0001-611061.0008), located within the deleted region, in 6 ...