Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation

Background: Osteogenesis Imperfecta (OI) is a connective tissue disorder. OI affects many aspects of a person s health and growth. It can cause frequent fractures, short stature, and bowing of the long bones. There is no known cure for OI so researchers want to learn more about it. Objectives: To obtain a natural history of the course of OI. To find changes in genes that affect the disease. Eligibility: People from birth to age 12 years with certain types of OI People who previously had childhood data collected in certain other protocols Design: Participants will stay in the clinic for a few days each visit. Visits will be about every 3-4 months to age 5 then about every 6-12 months. Visits may include: Medical history Physical exam Hearing test Dental exam Blood, urine, and heart tests Breathing measured while wearing a clear plastic hood for about 30 minutes Tests of motion, strength, and motor skills X-rays of the left hand, chest, legs, and spine Bone density scan. Participants will lie on a flat table while a very small dose of x-rays is passed through the body. Computed tomography and magnetic resonance imaging scans. Participants will lie on an exam table that moves in and out a scanner. Breathing tests using stickers on the chest, a light probe on a finger or foot, and a face mask Ultrasound of the kidneys, ureters, and bladder Questionnaires A small section of skin removed from the arm or thigh For some tests, participants may take medicine to make them sleepy. Participants may give separate consent for photos to be taken.

* INCLUSION CRITERIA: In order to be eligible to participate in this study, an individual must meet either #1 OR #2 of the following criteria: 1. Individuals previously enrolled in 97-CH-0064, or other NIH OI study protocols for whom childhood data were collected at the NIH. OR 2. Individuals from birth to age 12 years at enrollment to this protocol 18-CH-0120 with a diagnosis of any of OI type III - XVIII or potential additional types. Diagnosis of OI determined by identification of: 1. A mutation in one allele of genes causing autosomal dominant OI types (COL1A1, COL1A2, or IFITM5), OR 2. at least one mutation in genes that are indicative of the autosomal recessive OI types. OR Individuals with a clinical diagnosis of OI, and a mutation in one of the above genes identified through the Rare Bone disease screening protocol (04-CH-0077). EXCLUSION CRITERIA: * Individuals with the diagnosis of OI Type I. * Individuals who cannot travel to the NIH because of their medical condition. * Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation. \ There are no exclusionary criteria related to race or gender for this protocol.