Osteopathia striata-cranial sclerosis syndrome

What it is

From: Orphanet

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.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal metaphysis morphology · Very frequent (99-80%)

An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.

Facial hyperostosis · Very frequent (99-80%)

Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.

High iliac wings · Very frequent (99-80%)

Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).

Increased bone mineral density · Very frequent (99-80%)

An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.

Large iliac wings · Very frequent (99-80%)

Increased size of the ilium ala.

Osteopetrosis · Very frequent (99-80%)

Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.

Rough bone trabeculation · Very frequent (99-80%)

Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.

Thickened calvaria · Very frequent (99-80%)

The presence of an abnormally thick calvaria.

Bifid uvula · Frequent (79-30%)

Uvula separated into two parts most easily seen at the tip.

Cleft palate · Frequent (79-30%)

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Conductive hearing impairment · Frequent (79-30%)

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.

Delayed cranial suture closure · Frequent (79-30%)

Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.

Delayed eruption of teeth · Frequent (79-30%)

Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.

Flat occiput · Frequent (79-30%)

Reduced convexity of the occiput (posterior part of skull).

Other findings in the same source

From: Orphanet

Additional reported features include Frontal bossing (Frequent (79-30%)); High, narrow palate (Frequent (79-30%)); Large fontanelles (Frequent (79-30%)); Macrocephaly (Frequent (79-30%)); Prominent forehead (Frequent (79-30%)); Scoliosis (Frequent (79-30%)); Submucous cleft hard palate (Frequent (79-30%)); Wide nasal bridge (Frequent (79-30%)); Aortic valve stenosis (Occasional (29-5%)); Aphasia (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Antenatal; Infancy; Neonatal

Inheritance in the source

From: Orphanet

X-linked dominant

Frequency and the population described

From: Orphanet

Reported case(s): 100.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An X-linked dominant pattern involves a gene on the X chromosome. Expression can differ between individuals and between sexes. Family counselling requires the actual genetic finding and a clear family history; a general description cannot calculate the risk or severity for a particular child.

Which doctor should you see?

The suggested department for discussing Osteopathia striata-cranial sclerosis syndrome is Orthopaedics, with a orthopaedic specialist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• What explains the change in pain, movement or function?
• Which activities need adjustment while the diagnosis is being clarified?
• What are the roles of rehabilitation, observation and surgery in this situation?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Osteopathia striata-cranial sclerosis syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.