Ter Haar syndrome

Also Known As:

Borrone Di Rocco Crovato syndrome; Borrone dermatocardioskeletal syndrome; Frank Ter Haar syndrome; Frank-Ter Haar Syndrome; Megalocornea, multiple skeletal anomalies, and developmental delay

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Developmental Disabilities: 700
    - Ter Haar syndrome: 8
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Ter Haar syndrome: 8
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Ter Haar syndrome: 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Ter Haar syndrome: 8
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Ter Haar syndrome: 8
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Ter Haar syndrome: 8
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Ter Haar syndrome: 8
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Ter Haar syndrome: 8

Related Diseases

1.	Craniofacial Abnormalities
2.	Scoliosis
3.	Fibrosis (Cirrhosis)
4.	Craniosynostoses (Craniosynostosis)
5.	Contracture

Experts

1.	Buday, László: 3 articles (01/2018 - 09/2012)
2.	Sipeki, Szabolcs: 2 articles (01/2018 - 09/2012)
3.	Fekete, Anna: 2 articles (07/2015 - 09/2012)
4.	Geiszt, Miklós: 2 articles (07/2015 - 09/2012)
5.	AlSudairi, Hadeel N: 1 article (01/2022)
6.	Alaamery, Manal: 1 article (01/2022)
7.	Alhabshan, Fahad: 1 article (01/2022)
8.	Alkwai, Sarah: 1 article (01/2022)
9.	Alsuwailm, Moneera: 1 article (01/2022)
10.	Chaikhouni, Farah: 1 article (01/2022)

Drugs and Biologics

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

1.	Proteins (Proteins, Gene)FDA Link 01/01/2022 - "The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome." 07/17/2015 - "Our results suggest that misfolded Frank-ter Haar syndrome protein Tks4(R43W) is transported via the microtubule system to the aggresomes. " 07/17/2015 - "Recently, we have reported that a mutation (R43W) in the Frank-ter Haar syndrome protein Tks4 resulted in aberrant intracellular localization. " 07/17/2015 - "Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes." 09/07/2012 - "Mutations in the SH3PXD2B gene coding for the Tks4 protein are responsible for the autosomal recessive Frank-ter Haar syndrome. "
2.	Epidermal Growth Factor (EGF)IBA 09/07/2012 - "Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration." 01/01/2018 - "Our group recently showed that the Frank-ter Haar syndrome protein Tks4 (tyrosine kinase substrate with four Src homology 3 domains) is also involved in EGF signaling. "
3.	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 01/01/2018 - "Our group recently showed that the Frank-ter Haar syndrome protein Tks4 (tyrosine kinase substrate with four Src homology 3 domains) is also involved in EGF signaling. "
4.	Phosphatidylinositols (Phosphatidylinositol)IBA 09/07/2012 - "Furthermore, a PX domain mutant (R43W) Tks4 carrying a reported point mutation in a Frank-ter Haar syndrome patient showed aberrant intracellular expression and reduced phosphoinositide binding. "
5.	CollagenIBA 12/29/2020 - "The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome." 12/29/2020 - "Frank-Ter Haar syndrome (FTHS, MIM #249420) is a rare skeletal dysplasia within the defective collagen remodelling spectrum (DECORS), which is characterised by craniofacial abnormalities, skeletal malformations and fibrotic soft tissues changes including dermal fibrosis and joint contractures. "
6.	Anesthetics (Anesthetic Agents)IBA 03/01/2021 - "Anesthetic management of scoliosis operation in a pediatric patient with Frank-ter Haar syndrome: a case report."

Therapies and Procedures

1.	Sutures (Suture) 11/09/2012 - "The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome. "
2.	Anesthesia 03/01/2021 - "We present the anesthesia management of an 8-year-old boy with Frank-ter Haar syndrome who underwent posterior spinal instrumentation operation for scoliosis. "