Platyspondylic dysplasia, Torrance type

General Information (adopted from Orphanet):

Synonyms, Signs: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, TORRANCE TYPE
PLSDL, INCLUDED
THANATOPHORIC DYSPLASIA, TORRANCE VARIANT PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED
PLSD-T
THANATOPHORIC DYSPLASIA, LUTON VARIANT, INCLUDED
PLSDT
Platyspondylic dysplasia, Torrance-Luton type
Platyspondylic lethal skeletal dysplasia, Torrance type
Number of Symptoms 48
OrphanetNr: 85166
OMIM Id: 151210
ICD-10: Q77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spondylodysplastic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Type 2 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
2
 (HPO:0000280) Coarse facial features 189 / 7739
3
 (HPO:0000256) Macrocephaly 298 / 7739
4
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
5
 (HPO:0000470) Short neck 345 / 7739
6
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
7
 (HPO:0005451) Decreased cranial base ossification 1 / 7739
8
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
9
 (HPO:0003026) Short long bone 51 / 7739
10
 (HPO:0000773) Short ribs 70 / 7739
11
 (HPO:0003175) Hypoplastic ischia 12 / 7739
12
 (HPO:0003021) Metaphyseal cupping 16 / 7739
13
 (HPO:0005716) Lethal skeletal dysplasia 6 / 7739
14
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
15
 (HPO:0000883) Thin ribs 31 / 7739
16
 (HPO:0200083) Severe limb shortening 1 / 7739
17
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
18
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
19
 (HPO:0004565) Severe platyspondyly 13 / 7739
20
 (HPO:0004591) Disc-like vertebral bodies 1 / 7739
21
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
22
 (HPO:0000912) Sprengel anomaly Frequent [Orphanet] 51 / 7739
23
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
24
 (HPO:0003180) Flat acetabular roof 25 / 7739
25
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
26
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
27
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
28
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
29
 (HPO:0002970) Genu varum Frequent [Orphanet] 60 / 7739
30
 (HPO:0003173) Hypoplastic pubic bone 8 / 7739
31
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
32
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
33
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
34
 (HPO:0000946) Hypoplastic ilia 21 / 7739
35
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
36
 (HPO:0001789) Hydrops fetalis Frequent [Orphanet] 63 / 7739
37
 (HPO:0001538) Protuberant abdomen 36 / 7739
38
 (HPO:0004298) Abnormality of the abdominal wall 20 / 7739
39
 (HPO:0008921) Neonatal short-limb short stature 12 / 7739
40
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
41
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Frequent [Orphanet] 79 / 7739
42
 (OMIM) Torrance type - Hypercellular resting cartilage, large cells, normal growth plate 1 / 7739
43
 (OMIM) Short long tubular bones 2 / 7739
44
 (OMIM) Short, thin ribs 4 / 7739
45
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
46
 (OMIM) Luton type - hypercellular resting cartilage, normal and large cells, normal column formation, focal degenerating chondrocyte incorporation and focal disorganization 1 / 7739
47
 (OMIM) Hypoplastic, wide sacrosciatic notches 1 / 7739
48
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Horton et al. (1979) described an infant (their patient 11) with a form of platyspondylic lethal skeletal dysplasia (PLSD) that they designated the Torrance type (PLSDT). Radiologically, the Torrance variety is characterized by decreased ossification of the skull ...
Molecular genetics OMIM Brodie et al. (1999) searched for mutations in the FGFR3 gene (134934) in 22 cases of TD variants; no mutations were identified in cases of the Torrance or Luton types.

In each of 2 patients with ...