osteopathia striata with cranial sclerosis
Findings
No curated finding names osteopathia striata with cranial sclerosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
Definition from the Mondo Disease Ontology (MONDO:0010310), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
44 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Coarse metaphyseal trabecularizationHPOHP:0100670
- Very frequent (80% to 99% of cases)
- Facial hyperostosisHPOHP:0005465
- Very frequent (80% to 99% of cases)
- High iliac wingHPOHP:0008808
- Very frequent (80% to 99% of cases)
- Increased bone mineral densityHPOHP:0011001
- Very frequent (80% to 99% of cases)
- Large iliac wingHPOHP:0008818
- Very frequent (80% to 99% of cases)
Show the remaining 32
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
- Flat occiputHPOHP:0005469
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- High, narrow palateHPOHP:0002705
- Frequent (30% to 79% of cases)
- Large fontanellesHPOHP:0000239
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AMER1HGNC:26837
- Definitive · ClinGen · X-linked · 2024
- Definitive · Illumina · X-linked · 2018
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · G2P · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: osteopathia striata with cranial sclerosis
- Also called
- hyperostosis generalisata with striationsOsteopathia striata with cranial sclerosis, X-linked dominantRobinow-Unger syndrome