Osteopathia striata cranial sclerosis

An X-linked dominant osteosclerosis that presents in females with MACROCEPHALY; CLEFT PALATE, mild LEARNING DISABILITIES; SCLEROSIS of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and SCAPULAE. In males, the disorder usually results in fetal or neonatal lethality; surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability such as deafness due to pressure on cranial nerves. Osteopathia striata is a frequent feature of FOCAL DERMAL HYPOPLASIA. Mutations in the AMER1 gene have been identified. OMIM: 300373

Also Known As:

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Wounds and Injuries (Trauma)

Experts

1.	Jeong, Changhoon: 1 article (10/2021)
2.	Kim, Myungshin: 1 article (10/2021)
3.	Lee, Jaeyoung: 1 article (10/2021)
4.	Lee, Jiwon: 1 article (10/2021)
5.	Park, Il-Jung: 1 article (10/2021)
6.	Yim, Jisook: 1 article (10/2021)
7.	Brusco, Alfredo: 1 article (01/2021)
8.	Carli, Diana: 1 article (01/2021)
9.	Ciceri, Sara: 1 article (01/2021)
10.	Fagioli, Franca: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Osteopathia striata cranial sclerosis:

1.	Nonsense Codon (Nonsense Mutation)IBA 12/29/2022 - "Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene." 10/08/2021 - "We found a novel nonsense mutation in a family diagnosed as osteopathia striata with cranial sclerosis. " 10/08/2021 - "We have identified a novel nonsense mutation in the family diagnosed as osteopathia striata with cranial sclerosis. " 10/08/2021 - "Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report."
2.	Tumor Suppressor Proteins (Proteins, Tumor Suppressor)IBA 11/01/2012 - "Osteopathia striata with cranial sclerosis (OSCS) is an X-linked disease caused by mutations involving WTX (FAM123B), a tumor suppressor protein with dual functions. "
3.	DNA (Deoxyribonucleic Acid)IBA 10/08/2021 - "A genetic analysis was conducted on genomic DNA isolated from peripheral blood leukocytes of the proband and the mother for confirming the clinical suspicion of osteopathia striata with cranial sclerosis. "

Therapies and Procedures

1.	Spinal Fusion (Spondylosyndesis) 01/01/2016 - "Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma."
2.	Palatal Expansion Technique 05/01/2008 - "Surgically assisted rapid maxillary expansion in two cases of osteopathia striata with cranial sclerosis."