osteopathia striata with cranial sclerosis

Osteopathia Striata with Cranial Sclerosis (OSCS): A Rare Genetic Disorder

Osteopathia striata with cranial sclerosis, also known as OSCS, is a rare genetic disorder characterized by abnormalities in the bones and skull. The condition is typically inherited in an X-linked dominant pattern, meaning that females are more commonly affected than males.

Key Features of OSCS:

• Bony changes: Longitudinal striations in the metaphyseal region of the long bones, which can be seen on radiographs (X-rays) [1][2]
• Cranial sclerosis: A condition where the skull becomes hardened and thickened, leading to macrocephaly (a large head size) [3][4]
• Other features: Cleft palate, mild learning difficulties, and other systemic abnormalities may also be present in individuals with OSCS [5]

Genetic Basis of OSCS:

OSCS is caused by pathogenic variants in the AMER1 gene, which is located on the X chromosome. This genetic mutation leads to the characteristic bony and cranial changes associated with the condition [9].

References:

[1] R Gear (2023) - Most commonly include frontal bossing, hypertelorism, epicanthal folds, and a depressed nasal bridge.

[2] BB Gay Jr (1994) - Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head,

[3] - Bony changes on their own are typically incidental and autosomal dominant, whereas OS-CS is a multisystem, X-linked dominant disorder.

[4] - Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate,

[5] - Osteopathia striata with cranial sclerosis (OSCS) is a rare genetic entity characterized by osseous abnormalities.

[6] - Osteopatgia striata with cranial sclerosis (OSCS) is a bone dysplasia characterized by longitudinal striations in the metaphyseal region of the long bones

[7] - Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked condition that results from pathogenic variants in AMER1 gene.

Common Signs and Symptoms

People with osteopathia striata with cranial sclerosis (OSCS) may exhibit a range of signs and symptoms, which can vary in severity from person to person. Some common features include:

• Macrocephaly: A larger-than-normal head size [2]
• Cleft palate: A congenital condition where the roof of the mouth is partially or completely divided [1]
• Bifid uvula: A congenital condition where the uvula (the soft, fleshy part at the back of the throat) is split or notched [3]
• Conductive hearing impairment: Hearing loss due to problems with the middle ear [2]
• Mild learning difficulties: Some individuals may experience mild cognitive impairments [2]

Other Possible Features

In addition to these common signs and symptoms, some people with OSCS may also experience:

• Arachnodactyly: A condition where the fingers are abnormally long and slender [3]
• Osteosclerosis: Hardening of the bones in the cranial and facial regions, which can lead to disfigurement and disability due to pressure on cranial nerves [6]
• Deafness: Hearing loss due to problems with the inner ear or auditory nerve [6]

Early Detection

It's essential to note that many of these features are present at birth, making early detection crucial for proper management and care. If you suspect a child may have OSCS, consult a medical professional for a thorough evaluation and diagnosis.

References: [1] - Context result 2 [2] - Context result 2 [3] - Context result 3 [6] - Context result 6

Diagnostic Tests for Osteopathia Striata with Cranial Sclerosis

Osteopathia striata with cranial sclerosis (OS-CS) is a rare genetic disorder that requires a comprehensive diagnostic approach. The following tests are typically used to diagnose OS-CS:

• Clinical and radiological examination: This involves a thorough physical examination and imaging studies, such as X-rays or CT scans, to assess the skeletal system and identify characteristic features of OS-CS, including cranial sclerosis and longitudinal striations in the widened metaphyses of the long bones [1].
• Genetic testing: A heterozygous pathogenic variant in the AMER1 gene is a key diagnostic criterion for OS-CS. Genetic testing can be performed using various methods, such as chromosomal microarray analysis or sequencing [2, 9].
• Clinical genetic evaluation: A consultation and evaluation with a clinical geneticist are essential to establish a diagnosis of OS-CS. This involves a thorough medical history, physical examination, and review of imaging studies [6].

Additional Diagnostic Information

OS-CS is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning difficulties, and characteristic skeletal features [4]. It is essential to differentiate OS-CS from other rare genetic disorders, such as osteopathia striata (Voorhoeve disease) [7].

References

[1] Context result 1: Diagnosis is based on clinical and radiological examination...

[2] Context result 2: The diagnosis of OS-CS is established in a female proband with characteristic features and a heterozygous pathogenic variant in AMER1...

[3] Context result 3: Clinical Genetic Test offered by Bioarray for conditions (1): Osteopathia striata with cranial sclerosis; Testing genes (1): AMER1 (Xq11.2); ...

[4] Context result 4: Osteopathia striata with cranial sclerosis (OSCS) is a sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning...

[5] Context result 5: Test Code. 1816. Test Name. Osteopathia Striata With Cranial Sclerosis. CPT Codes. 81479. Expected Turnaround Time. Typically 2 to 4 weeks from receipt of a...

[6] Context result 6: To find out if someone has a diagnosis of Osteopathia with Cranial Sclerosis, it is important to have a consultation and evaluation with a clinical genetic...

[7] Context result 7: Jan 31, 2024 — Osteopathia striata with cranial sclerosis (OS-CS) is a clinically separate entity from osteopathia striata (Voorhoeve disease).

[8] Context result 8: Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild...

[9] Context result 9: “The doctors suspected Emersyn had a rare genetic disorder,” Jennifer said. “We started testing with a chromosomal microarray to look for extra or missing...

Based on the available information, it appears that there are limited treatment options for osteopathia striata with cranial sclerosis (OSCS).

• No curative treatment: According to search result [7], there is no curative treatment for OSCS. Management is generally multidisciplinary and aims to provide control of associated conditions.
• Short courses of calcitriol and interferon gamma: In the past, short courses of calcitriol and interferon gamma have been tried as a treatment option, but they were not tolerated by the patient [5] and [9].
• No medical treatment for osteopathia striata: Search result [2] mentions that there is no medical treatment for osteopathia striata.

It's worth noting that management of associated conditions such as scoliosis may be helpful, as mentioned in search result [4]. However, it seems that specific drug treatments for OSCS are not well established or effective.

References: [2], [5], [7], [9]

Differential diagnosis of osteopathia striata with cranial sclerosis (OS-CS) includes a large number of conditions with primary or secondary bone sclerosis [1].