Lethal Kniest-like dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 65
OrphanetNr: 2347
OMIM Id: 245190
ICD-10: Q77.8
UMLs: C1855605
MeSH: C537208
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0001538) Protuberant abdomen 36 / 7739
2
 (HPO:0001623) Breech presentation 16 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
5
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
6
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
7
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
8
 (HPO:0008909) Lethal short-limbed short stature 4 / 7739
9
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
10
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
11
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
12
 (HPO:0011025) Abnormality of cardiovascular system physiology Frequent [Orphanet] 41 / 7739
13
 (HPO:0011675) Arrhythmia 226 / 7739
14
 (HPO:0000969) Edema 117 / 7739
15
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
16
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
17
 (HPO:0001561) Polyhydramnios 191 / 7739
18
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
19
 (HPO:0001762) Talipes equinovarus 309 / 7739
20
 (HPO:0000946) Hypoplastic ilia 21 / 7739
21
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
22
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
23
 (HPO:0000947) Dumbbell-shaped long bone 5 / 7739
24
 (HPO:0003015) Flared metaphysis 44 / 7739
25
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
26
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
27
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
28
 (HPO:0004482) Relative macrocephaly 44 / 7739
29
 (HPO:0000260) Wide anterior fontanel 55 / 7739
30
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
31
 (HPO:0000885) Broad ribs 21 / 7739
32
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
33
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
34
 (HPO:0000773) Short ribs 70 / 7739
35
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
36
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
37
 (HPO:0000926) Platyspondyly 150 / 7739
38
 (HPO:0003417) Coronal cleft vertebrae 14 / 7739
39
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
40
 (HPO:0008479) Hypoplastic vertebral bodies 12 / 7739
41
 (HPO:0003298) Spina bifida occulta Very frequent [Orphanet] 67 / 7739
42
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
43
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
44
 (HPO:0000941) Short diaphyses 3 / 7739
45
 (HPO:0002652) Skeletal dysplasia 113 / 7739
46
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
47
 (HPO:0000272) Malar flattening 277 / 7739
48
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
49
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
50
 (HPO:0000175) Cleft palate 349 / 7739
51
 (HPO:0000160) Narrow mouth 188 / 7739
52
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
53
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
54
 (HPO:0000377) Abnormality of the pinna 111 / 7739
55
 (HPO:0011039) Abnormality of the helix Frequent [Orphanet] 33 / 7739
56
 (HPO:0000369) Low-set ears 372 / 7739
57
 (HPO:0001789) Hydrops fetalis Very frequent [Orphanet] 63 / 7739
58
 (HPO:0001622) Premature birth 100 / 7739
59
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
60
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
61
 (MedDRA:10072883) Brachydactyly 153 / 7739
62
 (OMIM) Enlarged chondrocytes 1 / 7739
63
 (OMIM) Matrix degeneration with large aggregated collagen fibers 1 / 7739
64
 (OMIM) Vertical ischia 2 / 7739
65
 (OMIM) Wide anterior ribs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sconyers et al. (1983) described male and female offspring of nonconsanguineous parents who died in the neonatal period with a severe skeletal dysplasia that radiologically and histologically resembled Kniest syndrome but differed in clinical course and inheritance. Kniest ...