Strudwick syndrome

Also Known As:

Dappled metaphysis syndrome; Sed Strudwick; Semd, Strudwick Type; Smed, Strudwick Type; Smed, Type I; Spondyloepimetaphyseal dysplasia, Strudwick type; Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type; Spondylometaphyseal Dysplasia; Spondylometaphyseal Dysplasia (Smd)

Networked: 22 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Strudwick syndrome: 22
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Strudwick syndrome: 22

Related Diseases

1.	Kyphosis
2.	Perinatal Death
3.	Coxa Vara
4.	Genu Valgum
5.	Inborn Genetic Diseases (Disease, Hereditary)

Experts

1.	Campeau, Philippe M: 3 articles (01/2019 - 11/2017)
2.	Baratang, Nissan Vida: 2 articles (01/2019 - 01/2019)
3.	Bertola, Débora: 2 articles (01/2019 - 11/2017)
4.	Krakow, Deborah: 2 articles (01/2019 - 11/2017)
5.	Reinhardt, Dieter P: 2 articles (01/2019 - 11/2017)
6.	Yamamoto, Guilherme L: 2 articles (01/2019 - 01/2019)
7.	Yap, Patrick: 2 articles (01/2019 - 11/2017)
8.	Valle, David: 2 articles (01/2018 - 01/2015)
9.	Hoover-Fong, Julie: 2 articles (11/2017 - 01/2015)
10.	Sobreira, Nara: 2 articles (11/2017 - 01/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Strudwick syndrome:

1.	Collagen Type II (Type II Collagen)IBA 12/01/2011 - "Interestingly, some of the skeletal changes overlap with spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, a rare type II collagen disorder. " 09/01/1995 - "Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type." 01/01/2015 - "To document the diagnosis and repair of bilateral retinal detachments in a child with spondyloepimetaphyseal dysplasia-Strudwick type, a rare autosomal dominant genetic disorder involving abnormal production of Type II collagen. " 01/01/2006 - "Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type is a rare autosomal dominant condition arising from defects in COL2A1 the genes responsible for the biosynthesis of procollagen type II. The orthopaedic manifestations of patients can be hypoplastic odontoid peg with atlantoaxial instability, severe kyphosis or lordosis of dorsal and lumbar spines, hip subluxation, coxa vara and early severe hip osteoarthritis, and malalignment of lower limbs like genu valgum or club foot. "
2.	Proteins (Proteins, Gene)FDA Link 09/02/1993 - "Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition." 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. " 02/01/2004 - "Transgenic mice expressing defective collagen X under the control of 4.7- or 1.6-kb chicken collagen X regulatory sequences yielded skeleto-hematopoietic defects (Jacenko O, LuValle P, Olsen BR: Spondylometaphyseal dysplasia in mice carrying a dominant-negative mutation in a matrix protein specific for cartilage-to-bone transition. "
3.	Collagen Type XIBA 12/01/1998 - "Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia." 02/01/2001 - "The type X collagen gene (COL10A1) is currently known as the disease-causing gene of metaphyseal dysplasia type Schmid (MDS), whereas a mutation of COL10A1 has been reported to cosegregate with a disease phenotype of mild spondylometaphyseal dysplasia (SMD) in a Japanese family. "
4.	Retinaldehyde (Retinal)IBA 01/01/2015 - "Critically, we propose a temporal association between retinal detachment and the onset of puberty in these patients and suggest that a dilated retinal screening examination should be scheduled at around the time of puberty for patients with spondyloepimetaphyseal dysplasia-Strudwick type to detect any asymptomatic retinal pathology." 01/01/2017 - "Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal or skeletal involvement. "
5.	Fibronectins (Fibronectin)IBA 01/01/2019 - "Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some individuals affected by spondylometaphyseal dysplasia with "corner fractures" (SMD-CF). " 01/01/2019 - "Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"." 11/02/2017 - "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"."
6.	CollagenIBA 01/01/2022 - "Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple cervical level disconnection syndrome 1, Klippel-Feil 3, congenital absence of C2 pars 4. Non-syndromic cases; 2 with neurofibromatosis (NF1) and prevertebral tumors, fibromatosis 1, spontaneous kyphosis 1, and postlaminectomy 4. Factors considered were age, pathology, flexibility on cervical spine dynamic films, reduction with traction and spinal cord compression. " 02/01/2004 - "Transgenic mice expressing defective collagen X under the control of 4.7- or 1.6-kb chicken collagen X regulatory sequences yielded skeleto-hematopoietic defects (Jacenko O, LuValle P, Olsen BR: Spondylometaphyseal dysplasia in mice carrying a dominant-negative mutation in a matrix protein specific for cartilage-to-bone transition. "
7.	Lamin B ReceptorIBA 01/01/2022 - "Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia." 01/01/2015 - "An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias."
8.	Selenoproteins (Selenoprotein)IBA 11/12/2021 - "Perinatal death is reminiscent of the Sedaghatian spondylometaphyseal dysplasia disorder in humans, which is caused by pathogenic variants in the gene encoding the selenoprotein and key ferroptosis regulator glutathione peroxidase 4 (GPX4). "
9.	Glutamic Acid (Glutamate)FDA Link 01/01/2000 - "Interestingly, another mutation of the same codon, in which glycine is substituted by glutamic acid (G595E), was previously reported to cause spondylometaphyseal dysplasia (SMD), another group of skeletal dysplasias with involvement of the spine in addition to the long tubular bones. "
10.	Proteoglycans (Proteoglycan)IBA 07/01/1984 - "Abnormalities that probably are related to degradative lysosomal processes of proteoglycans in chondrocytes were found in spondylometaphyseal dysplasia of the Kozlowski type. "

Therapies and Procedures

1.	Braces 01/01/1986 - "We describe an 8-year-old girl with spondylometaphyseal dysplasia, most closely resembling the Kozlowski type, in whom rachitic metaphyseal involvement underwent dramatic radiographic healing when she wore leg braces; discontinuation of the braces was followed by recurrence of the growth plate abnormalities. " 06/01/2015 - "Brace treatment of thoracolumbar kyphosis in spondylometaphyseal dysplasia with restoration of vertebral morphology and sagittal profile: a case report." 01/01/2022 - "Diagnosis "fibromatosis" #23 Mid-cervical kyphosis Traction C2-5 lateral mass fusion with screws, rods and rib grafts Worse after removal of initial traction Brace 3 months 8 years Fused 45° 15° 7 8 Doing well #24 Chiari I SHM Intraoperative traction O-C5 rib graft fusion None Halo vest 3 months 21 years Fused 50° 7° 2 6 Facets atrophied C2, C3 at surgery #25 Chiari I SHM Intraoperative traction O-C5 dorsal fusion with loop and rib None Miami J brace 4 months 22 years Fused 55° 10° 3 6 Facets atrophied C2-4 at surgery #26 Chordoma C3-4 1. Dorsal lateral C3-6 fusion 2. C2-5 anterior fusion with iliac bone None Miami J brace 6 months 18 years Fused 20° 12° 5 8 Weak in hands after initial surgery elsewhere #27 ABC tumor C4 Anterior C3-5 fusion with plate and bone None Miami J brace 4 weeks 12 years Fused 40° 15° 5 8 No recurrence SED spondyloepiphyseal dysplasia, SMD spondylometaphyseal dysplasia, JOA Japanese Orthopedic Association, MRI magnetic resonance imaging, SHM syringohydromyelia, NF1 neurofibromatosis type 1, f/u follow up, OI osteogenesis imperfecta, CT computed tomography, JK junctional kyphosis."
2.	Traction 01/01/2022 - "Diagnosis "fibromatosis" #23 Mid-cervical kyphosis Traction C2-5 lateral mass fusion with screws, rods and rib grafts Worse after removal of initial traction Brace 3 months 8 years Fused 45° 15° 7 8 Doing well #24 Chiari I SHM Intraoperative traction O-C5 rib graft fusion None Halo vest 3 months 21 years Fused 50° 7° 2 6 Facets atrophied C2, C3 at surgery #25 Chiari I SHM Intraoperative traction O-C5 dorsal fusion with loop and rib None Miami J brace 4 months 22 years Fused 55° 10° 3 6 Facets atrophied C2-4 at surgery #26 Chordoma C3-4 1. Dorsal lateral C3-6 fusion 2. C2-5 anterior fusion with iliac bone None Miami J brace 6 months 18 years Fused 20° 12° 5 8 Weak in hands after initial surgery elsewhere #27 ABC tumor C4 Anterior C3-5 fusion with plate and bone None Miami J brace 4 weeks 12 years Fused 40° 15° 5 8 No recurrence SED spondyloepiphyseal dysplasia, SMD spondylometaphyseal dysplasia, JOA Japanese Orthopedic Association, MRI magnetic resonance imaging, SHM syringohydromyelia, NF1 neurofibromatosis type 1, f/u follow up, OI osteogenesis imperfecta, CT computed tomography, JK junctional kyphosis." 01/01/2022 - "Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple cervical level disconnection syndrome 1, Klippel-Feil 3, congenital absence of C2 pars 4. Non-syndromic cases; 2 with neurofibromatosis (NF1) and prevertebral tumors, fibromatosis 1, spontaneous kyphosis 1, and postlaminectomy 4. Factors considered were age, pathology, flexibility on cervical spine dynamic films, reduction with traction and spinal cord compression. "
3.	Cesarean Section (Caesarean Section) 07/01/2002 - "Combined spinal epidural anaesthesia for elective caesarean section in a patient with spondylometaphyseal dysplasia." 07/01/2002 - "A patient with spondylometaphyseal dysplasia, an extremely rare form of dwarfism, presented for elective caesarean section. "