Diaphanospondylodysostosis

General Information (adopted from Orphanet):

Synonyms, Signs: VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS
Number of Symptoms 62
OrphanetNr: 66637
OMIM Id: 608022
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant vertebral and costal involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Spondylodysplastic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008643) Nephroblastomatosis 2 / 7739
2
 (HPO:0100880) Nephrogenic rest 3 / 7739
3
 (HPO:0000105) Enlarged kidneys 30 / 7739
4
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
5
 (HPO:0000113) Polycystic kidney dysplasia Very frequent [Orphanet] 75 / 7739
6
 (HPO:0003196) Short nose 264 / 7739
7
 (HPO:0000457) Depressed nasal ridge 85 / 7739
8
 (HPO:0005280) Depressed nasal bridge 381 / 7739
9
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
10
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0000175) Cleft palate 349 / 7739
13
 (HPO:0000239) Large fontanelles 135 / 7739
14
 (HPO:0000286) Epicanthus 371 / 7739
15
 (HPO:0000316) Hypertelorism 644 / 7739
16
 (HPO:0000465) Webbed neck 81 / 7739
17
 (HPO:0000369) Low-set ears 372 / 7739
18
 (HPO:0001263) Global developmental delay 853 / 7739
19
 (HPO:0001591) Bell-shaped thorax 35 / 7739
20
 (HPO:0006615) Absent in utero rib ossification 1 / 7739
21
 (HPO:0200133) Lumbosacral meningocele 2 / 7739
22
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
23
 (HPO:0001765) Hammertoe 63 / 7739
24
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
25
 (HPO:0000921) Missing ribs Very frequent [Orphanet] 62 / 7739
26
 (HPO:0008435) Absent in utero ossification of vertebral bodies 1 / 7739
27
 (HPO:0003275) Narrow pelvis bone 8 / 7739
28
 (HPO:0001762) Talipes equinovarus 309 / 7739
29
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
30
 (HPO:0002475) Myelomeningocele Very frequent [Orphanet] 29 / 7739
31
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
32
 (HPO:0004606) Unossified vertebral bodies 4 / 7739
33
 (HPO:0010880) Increased nuchal translucency 13 / 7739
34
 (HPO:0001562) Oligohydramnios 75 / 7739
35
 (HPO:0000023) Inguinal hernia 181 / 7739
36
 (HPO:0001538) Protuberant abdomen 36 / 7739
37
 (HPO:0100752) Abnormal liver lobulation 2 / 7739
38
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
39
 (HPO:0001804) Hypoplastic fingernail 62 / 7739
40
 (HPO:0002779) Tracheomalacia 26 / 7739
41
 (HPO:0002098) Respiratory distress 75 / 7739
42
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
43
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
44
 (HPO:0001324) Muscle weakness 859 / 7739
45
 (HPO:0010547) Muscle flaccidity 466 / 7739
46
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
47
 (HPO:0001252) Muscular hypotonia 990 / 7739
48
 (OMIM) Ribbon-like ribs 3 / 7739
49
 (OMIM) Absent in utero ossification of pedicles 1 / 7739
50
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
51
 (HPO:0030290) Unossified sacrum 1 / 7739
52
 (OMIM) Posterior gaps in ribs 1 / 7739
53
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
54
 (OMIM) Delayed ossification of pedicles 1 / 7739
55
 (OMIM) Unossified sacrum 1 / 7739
56
 (OMIM) Zipper-like pedicles 1 / 7739
57
 (HPO:0002126) Polymicrogyria 64 / 7739
58
 (OMIM) Downward tilt of pubic rami 1 / 7739
59
 (OMIM) Respiratory distress/insufficiency 1 / 7739
60
 (OMIM) Nuchal translucency 2 / 7739
61
 (OMIM) Trilobed liver 1 / 7739
62
 (OMIM) Intralobular nephrogenic rests 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed ...
Clinical Description OMIM Prefumo et al. (2003) described 3 sibs, born to nonconsanguineous parents, with absent intrauterine ossification of the spinal column, rib abnormalities with unossified segments and posterior gaps, thoracic hypoplasia, and multiple intralobar nephrogenic rests in the kidneys. Whole ...
Molecular genetics OMIM Using a targeted capture-and-resequencing approach on DNA from a proband with diaphanospondylodysostosis, in whom 2 autozygous intervals had been found on chromosomes 1 and 7, Funari et al. (2010) identified homozygosity for a nonsense mutation in the BMPER ...