Skeletal dysplasia

Gene: AMER1

Green List (high evidence)

Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia 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 is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Well established gene-disease association, multiple families reported.

Created: 3 Nov 2021, 9 p.m. | Last Modified: 3 Nov 2021, 9 p.m.

Panel Version: 0.9593

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Osteopathia striata with cranial sclerosis, MIM# 300373

Publications

• 20209645
• 19079258