Platyspondylic dysplasia, Torrance type

Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the <i>COL2A1</i> gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.



Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(37.5%)		 22495950
 Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.
Desir J, Cassart M, Donner C, Coucke P, Abramowicz M, Mortier G.
Am J Med Genet A. 2012;158A(8):1948-52.
Platyspondyly Brachydactyly
COL2A1
c|DEL|4458_4460|CTT p|DEL|1486|F
Adult Females Genes, Lethal Homo sapiens Mosaicism Mutation Osteochondrodysplasias Pregnancy
2
(35.3%)		 15643621
 Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A.
Am J Med Genet A. 2005;133A(1):61-7.
Brachydactyly
COL2A1
Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Fatal Outcome Females Fetal Death Follow-Up Studies Homo sapiens Infant Infant, Newborn Male Mutation Osteochondrodysplasias Phenotype
3
(21.2%)		 22711552
 Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.
Okamoto T, Nagaya K, Asai H, Tsuchida E, Nohara F, Hayashi T, Yamashita A, Nishimura G, Azuma H.
Am J Med Genet A. 2012;158A(8):1953-6.
Skeletal dysplasia
COL2A1
c|SUB|G|3545|A p|SUB|G|1182|D
Bone and Bones Genes, Lethal Heterozygote Homo sapiens Male Mutation Phenotype Sibling
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0001191 Abnormality of the carpal bones Very frequent (99-80%)
HP:0001773 Short foot Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003021 Metaphyseal cupping Very frequent (99-80%)
HP:0003090 Hypoplasia of the capital femoral epiphysis Very frequent (99-80%)
HP:0003270 Abdominal distention Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0008839 Hypoplastic pelvis Very frequent (99-80%)
HP:0008873 Disproportionate short-limb short stature Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0010306 Short thorax Very frequent (99-80%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000882 Hypoplastic scapulae Frequent (79-30%)
HP:0001561 Polyhydramnios Frequent (79-30%)
HP:0001789 Hydrops fetalis Frequent (79-30%)
HP:0002089 Pulmonary hypoplasia Frequent (79-30%)
HP:0002970 Genu varum Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0011220 Prominent forehead Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0001156 Brachydactyly 2
HP:0002652 Skeletal dysplasia 2
HP:0000926 Platyspondyly 1
HP:0005716 Lethal skeletal dysplasia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
COL2A1 collagen type II alpha 1 chain 1280