Osteopathia striata cranial sclerosis
Alternate names[edit | edit source]
OSCS; Hyperostosis generalisata with striations; Osteopathia striata - cranial sclerosis; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome; Voorhoeve disease
Definition[edit | edit source]
Osteopathia striata with cranial sclerosis (OSCS) causes the bones to become unusually hard and thick.
Epidemiology[edit | edit source]
The exact number of people with osteopathia striata with cranial sclerosis (OSCS) is unknown. About 100 people with OSCS have been reported in the medical literature. It is thought that less than 1 in one million people have this condition.
Cause[edit | edit source]
Osteopathia striata cranial sclerosis is caused by variants in the AMER1 gene.
Inheritance[edit | edit source]
It is inherited in an X-linked dominant pattern.
Signs and symptoms[edit | edit source]
The symptoms in females with OSCS can range from very mild to severe. Males with OSCS usually (but not always) have very severe symptoms and die before or shortly after birth.
Symptoms of OSCS may include:
- Abnormal thickening of the bones (especially the long bones)
- Large head size (macrocephaly)
- Hardening of the bones of the head and face
- Cleft palate
- Hearing loss
- Less common features include heart defects, gastrointestinal abnormalities and developmental delay.
- About 100 cases of OSCS have been described in the literature, and there is not much information about how this condition may change as someone gets older. It is known that people with OSCS may be shorter than average, have delayed eruption of teeth, and may be at increased risk to develop Wilm's tumor.
Diagnosis[edit | edit source]
Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing.
Treatment[edit | edit source]
Treatment is focused on managing the symptoms and may include surgery and physical therapy.
NIH genetic and rare disease info[edit source]
Osteopathia striata cranial sclerosis is a rare disease.
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