Osteopathia striata with cranial sclerosis

Osteopatgia striata with cranial stenosis
Other namesOSCS
SpecialtyMedical genetics, Radiology
SymptomsBone anomalies mainly
ComplicationsRespiratory arrest and nutritional deficiency
Usual onsetBirth
DurationLifelong
CausesGenetic mutation
Preventionnone
PrognosisMedium
Frequencyrare, between 70 and 90 cases have been described
Deaths–

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

Signs and symptoms

Symptoms and their severity vary person to person but generally people with OSCS have generalized dysplasia of the distal parts of the long bones, cranial sclerosis (that is, the hardening of bones in the face and head), macrocephaly (abnormally large head), and cleft palate. Developmental delay, hearing loss, congenital heart defects, alongside feeding and breathing (dyspnea) difficulties are common as well, although they are not seen in all cases.[1]

Complications

The feeding and breathing difficulties that are sometimes associated with OSCS can result in starvation, nutritional deficiencies, and/or respiratory arrest if they remain untreated, which may result in early death.[2]

Treatment

Although OSCS has no cure, it can be treated and managed. Treatment is symptom-specific, for example: avoiding areas with air pollution (e.g., big cities, smoking areas, etc.), high-altitude areas, and physically exhausting activities can reduce breathlessness episodes (breathing difficulties).[3]

Causes

This condition is caused by X-linked dominant mutations in the AMER1 gene, in the X chromosome.[4]

Prevalence

According to OMIM, the total number of cases described in medical literature is between 70 and 90.[5]

References

  1. ^ "Osteopathia striata with cranial sclerosis - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-05.
  2. ^ Arts-Rodas, Debby; Benoit, Diane (1998). "Feeding problems in infancy and early childhood: Identification and management". Paediatrics & Child Health. 3 (1): 21–27. doi:10.1093/pch/3.1.21. ISSN 1205-7088. PMC 2851259. PMID 20401193.
  3. ^ "Difficulty breathing: Causes, symptoms, and treatment". www.medicalnewstoday.com. 2019-02-13. Retrieved 2022-07-06.
  4. ^ "Orphanet: Osteopathia striata cranial sclerosis syndrome". www.orpha.net. Retrieved 2022-07-06.
  5. ^ "Entry - #300373 - Osteopathia striata with cranial sclerosis; OSCS - OMIM". www.omim.org. Retrieved 2022-07-06.

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