MediFind
Condition

Brachydactyly Mononen Type

Condition 101

What are the alternative names for Brachydactyly Mononen Type?

  • Skeletal dysplasia brachydactyly
  • Mononen Karnes Senac syndrome
  • Thumbs and great toes short and abducted

Latest Research

Latest Advance
Study
  • Condition: Atlantoaxial Instability in Morquio Syndrome
  • Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • Treatment Used: Free-Hand C1-C2 Fusion
  • Number of Patients: 1
  • Published —
The study researched the use of free-hand C1-C2 fusion for patients with atlantoaxial instability in Morquio syndrome.
Latest Advance
Study
  • Condition: Japanese Boy with Morquio A Syndrome
  • Journal: International journal of molecular sciences
  • Treatment Used: Enzyme Replacement Therapy (ERT) Initiated at the Age of 24 Months
  • Number of Patients: 1
  • Published —
This case report describes the clinical course of a Japanese boy with Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), an autosomal recessive disorder, who began enzyme replacement therapy (ERT) at the age of 24 months.
Latest Advance
Study
  • Condition: Tracheobronchopathia Osteochondroplastica
  • Journal: Kyobu geka. The Japanese journal of thoracic surgery
  • Treatment Used: Open Heart Surgery Using an Endotracheal Tube Introducer
  • Number of Patients: 1
  • Published —
The study researched the outcomes of open heart surgery using an endotracheal tube introducer for tracheobronchopathia osteochondroplastica.
Latest Advance
Study
  • Condition: Spondyloepiphyseal Dysplasia Congenita
  • Journal: Journal of pediatric orthopedics
  • Treatment Used: Valgus Hip Osteotomy
  • Number of Patients: 79
  • Published —
This study tested the safety and efficacy of using a valgus hip osteotomy to treat children aged mean 9.6 years with spondyloepiphyseal dysplasia congenita.

Clinical Trials

Clinical Trial
Other
  • Status: Recruiting
  • Participants: 200
  • Start Date: August 12, 2019
Prospective Clinical Assessment Study in Children With Achondroplasia: The PROPEL Trial
Clinical Trial
Drug
  • Status: Recruiting
  • Study Type: Drug
  • Participants: 30
  • Start Date: November 7, 2018
A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI
Clinical Trial
Behavioral
  • Status: Recruiting
  • Study Type: Behavioral
  • Participants: 1700
  • Start Date: September 28, 2018
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2