Osteogenesis imperfecta type I- MedGen UID:
- 9799
- •Concept ID:
- C0023931
- •
- Disease or Syndrome
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Osteogenesis imperfecta with normal sclerae, dominant form- MedGen UID:
- 78665
- •Concept ID:
- C0268363
- •
- Congenital Abnormality
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Otosclerosis 3- MedGen UID:
- 334054
- •Concept ID:
- C1842353
- •
- Disease or Syndrome
Otosclerosis 7- MedGen UID:
- 409738
- •Concept ID:
- C1969044
- •
- Disease or Syndrome
Otosclerosis 4- MedGen UID:
- 369916
- •Concept ID:
- C1969046
- •
- Disease or Syndrome
Otosclerosis 8- MedGen UID:
- 436965
- •Concept ID:
- C2677515
- •
- Disease or Syndrome
Otosclerosis 10- MedGen UID:
- 854867
- •Concept ID:
- C3888339
- •
- Disease or Syndrome
Otosclerosis is a hearing disorder that is associated with disordered bone remodeling in the otic capsule. The bone remodeling can result in conductive, mixed, or sensorineural hearing loss as a result of stapes footplate fixation or cochlear involvement (summary by Schrauwen et al., 2011).
Otosclerosis 1- MedGen UID:
- 1639517
- •Concept ID:
- C4551901
- •
- Disease or Syndrome
Multiple synostoses syndrome 4- MedGen UID:
- 1638842
- •Concept ID:
- C4693531
- •
- Disease or Syndrome
Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500).
Otosclerosis 11- MedGen UID:
- 1846918
- •Concept ID:
- C5882715
- •
- Disease or Syndrome
Otosclerosis-11 (OTSC11) is characterized by onset of progressive hearing loss in the second to third decade of life. Deafness ranges from moderate to severe, and may be conductive, sensorineural, or mixed. Hearing may improve with stapedectomy, but profound sensorineural deafness may require a cochlear implant (Abdelfatah et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of otosclerosis, see OTSC1 (166800).