sponastrime type Spondyloepimetaphyseal dysplasia

Short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation

Also Known As:

Spondyloepimetaphyseal dysplasia, sponastrime type; Sponastrime dysplasia; Spondylar and nasal alterations with striated metaphyses

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
      - sponastrime type Spondyloepimetaphyseal dysplasia: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - sponastrime type Spondyloepimetaphyseal dysplasia: 3

Related Diseases

1.	Strudwick syndrome

Experts

1.	Adeli, Mehdi: 1 article (01/2019)
2.	Ali, Asim: 1 article (01/2019)
3.	Bacino, Carlos A: 1 article (01/2019)
4.	Bamshad, Michael: 1 article (01/2019)
5.	Baratang, Nissan Vida: 1 article (01/2019)
6.	Baratela, Wagner A R: 1 article (01/2019)
7.	Beaudet, Arthur L: 1 article (01/2019)
8.	Bertola, Débora: 1 article (01/2019)
9.	Bertuch, Alison A: 1 article (01/2019)
10.	Bi, Weimin: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to sponastrime type Spondyloepimetaphyseal dysplasia:

1.	Growth Hormone (Somatotropin)IBA 01/01/2002 - "Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness."
2.	Proteins (Proteins, Gene)FDA Link 01/01/2019 - "Here, we identified bi-allelic variants in TONSL, which encodes the Tonsoku-like DNA repair protein, in nine subjects (from eight families) with SPONASTRIME dysplasia, and four subjects (from three families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities, but no definitive metaphyseal striations at diagnosis. "
3.	MetalsIBA 01/01/1993 - "Sponastrime dysplasia: report on two siblings with metal retardation."
4.	Heparitin Sulfate (Heparan Sulfate)IBA 01/01/2002 - "We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. "
5.	GlycosaminoglycansIBA 01/01/2002 - "Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness." 01/01/2002 - "We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. "
6.	Dermatan SulfateIBA 01/01/2002 - "We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. "
7.	Chondroitin Sulfates (Chondroitin Sulfate)IBA 01/01/2002 - "We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. "