Spondyloperipheral dysplasia short ulna

Also Known As:

Familial spondyloepiphyseal dysplasia; Spondyloperipheral Dysplasia With Short Ulna; Spondyloperipheral dysplasia

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Spondyloperipheral dysplasia short ulna: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Spondyloperipheral dysplasia short ulna: 3

Related Diseases

1.	Brachydactyly
2.	Osteoarthritis

Experts

1.	Acaia, Barbara: 1 article (02/2011)
2.	Andreucci, Elena: 1 article (02/2011)
3.	Bedeschi, Maria Francesca: 1 article (02/2011)
4.	Bianchi, Vera: 1 article (02/2011)
5.	Colombo, Lorenzo: 1 article (02/2011)
6.	Furga, Andrea Superti: 1 article (02/2011)
7.	Gentilin, Barbara: 1 article (02/2011)
8.	Giglio, Sabrina: 1 article (02/2011)
9.	Lalatta, Faustina: 1 article (02/2011)
10.	Natacci, Federica: 1 article (02/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spondyloperipheral dysplasia short ulna:

1.	Collagen Type II (Type II Collagen)IBA 05/03/1996 - "A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia." 07/01/1994 - "Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. "
2.	Cysteine (L-Cysteine)FDA Link 07/01/1994 - "Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. "
3.	CollagenIBA 02/28/2011 - "A 28 year old primigravida was referred to us at 17 weeks for counselling with an undiagnosed skeletal dysplasia with specific skeletal anomalies suggesting the collagen 2 disorder, spondyloperipheral dysplasia (SPD; MIM 156550).She was counselled about the probability of dominant inheritance and was offered a prenatal diagnosis by sonography. "
4.	Arginine (L-Arginine)FDA Link 07/01/1994 - "Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. "
5.	dimemorfan (AT 17)IBA 02/28/2011 - "A 28 year old primigravida was referred to us at 17 weeks for counselling with an undiagnosed skeletal dysplasia with specific skeletal anomalies suggesting the collagen 2 disorder, spondyloperipheral dysplasia (SPD; MIM 156550).She was counselled about the probability of dominant inheritance and was offered a prenatal diagnosis by sonography. "