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Osteopathia striata with cranial sclerosis


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Other Names:
OSCS; Hyperostosis generalisata with striations; Osteopathia striata - cranial sclerosis; OSCS; Hyperostosis generalisata with striations; Osteopathia striata - cranial sclerosis; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome; Voorhoeve disease See More
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary


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Osteopathia striata with cranial sclerosis (OSCS) causes the bones to become unusually hard and thick. The severity of the condition and the symptoms vary significantly from person to person, even within the same family. Features of the condition are generally present at birth. Symptoms may include skeletal abnormalities at the ends of long bones, hardening (sclerosis) of the bones of the head and face, large head size, and cleft palate. Some people with OSCS may also have developmental delay, hearing loss, heart defects, and breathing and feeding difficulties. Osteopathia striata cranial sclerosis is caused by variants in the AMER1 gene and is inherited in an X-linked dominant pattern. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms and may include surgery and physical therapy.[1][2]
Last updated: 2/8/2021

Symptoms Symptoms


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The following list includes the most common signs and symptoms in people with osteopathia striata with cranial sclerosis (OSCS). These features may be different from person to person. Some people may have more symptoms than others, and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

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.[3]

Symptoms of OSCS may include:[4][5985]
  • 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.[5]
Last updated: 2/8/2021

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 126 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Coarse metaphyseal trabecularization 0100670
Facial hyperostosis
Enlargment of the facial bones
Excessive growth of facial bones
Excessive growth of facial skeleton
Increase in size of the facial bones
Overgrowth of facial bones
Overgrowth of facial skeleton
Overgrowth of the facial bones
[ more ]
0005465
Growth hormone excess 0000845
High iliac wings 0008808
Increased circulating prolactin concentration 0000870
Increased serum insulin-like growth factor 1 0030269
Large iliac wings 0008818
Osteopetrosis
Harder, denser, fracture-prone bones
0011002
Tall stature
Increased body height
0000098
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap
[ more ]
0002684
30%-79% of people have these symptoms
Abnormal oral glucose tolerance 0004924
Abnormality of optic chiasm morphology 0025163
Bifid uvula 0000193
Coarse facial features
Coarse facial appearance
0000280
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ]
0000405
Decreased thyroid-stimulating hormone level 0031098
Delayed cranial suture closure 0000270
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
0000684
Fasting hyperinsulinemia
High blood insulin levels while fasting
0008283
Flat occiput 0005469
Frontal bossing 0002007
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
0002705
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ]
0000975
Increased body mass index 0031418
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
0001256
Large fontanelles
Wide fontanelles
0000239
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Pituitary adenoma
Noncancerous tumor in pituitary gland
0002893
Polyphagia
Voracious appetite
0002591
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ]
0011220
Scoliosis 0002650
Sleep apnea
Pauses in breathing while sleeping
0010535
Snoring 0025267
Submucous cleft hard palate 0000176
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
0000431
5%-29% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ]
0003270
Abnormality of the cardiovascular system
Cardiovascular abnormality
0001626
Abnormality of the skeletal system
Skeletal abnormalities
Skeletal anomalies
[ more ]
0000924
Acanthosis nigricans
Darkened and thickened skin
0000956
Adrenocorticotropic hormone deficiency 0011748
Aortic valve stenosis
Narrowing of aortic valve
0001650
Aphasia
Difficulty finding words
Losing words
Loss of words
[ more ]
0002381
Asymmetry of the thorax
Asymmetric chest
0001555
Ataxia 0001251
Brachycephaly
Short and broad skull
0000248
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta
[ more ]
0001680
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
0000823
Diabetes insipidus 0000873
Diastema
Gap between teeth
0000699
Dysphasia 0002357
Echolalia
Echoing another person's speech
0010529
Enlarged pituitary gland 0012505
Epicanthus
Eye folds
Prominent eye folds
[ more ]
0000286
Facial palsy
Bell's palsy
0010628
Flat face
Flat facial shape
0012368
Global developmental delay 0001263
Headache
Headaches
0002315
Hyperlordosis
Prominent swayback
0003307
Hypogonadism
Decreased activity of gonads
0000135
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Large hands
large hand
0001176
Long foot
Disproportionately large feet
large feet
long feet
[ more ]
0001833
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Mutism
Inability to speak
Muteness
[ more ]
0002300
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
0000278
Seizure 0001250
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
0003510
Specific learning disability 0001328
Spina bifida occulta 0003298
Visual field defect
Partial loss of field of vision
0001123
1%-4% of people have these symptoms
Anal atresia
Absent anus
0002023
Anal stenosis
Narrowing of anal opening
0002025
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
0000750
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Multicystic kidney dysplasia 0000003
Omphalocele 0001539
Percent of people who have these symptoms is not available through HPO
Apnea 0002104
Arachnodactyly
Long slender fingers
Spider fingers
[ more ]
0001166
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
0001631
Broad ribs
Wide ribs
0000885
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cleft upper lip
Harelip
0000204
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Craniofacial osteosclerosis 0005464
Delayed closure of the anterior fontanelle
Later than typical closing of soft spot of skull
0001476
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
0000678
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
0000689
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Fibular aplasia
Absent calf bone
0002990
Fibular hypoplasia
Short calf bone
0003038
Flexion contracture of toe 0005830
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ]
0002020
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Intestinal malrotation 0002566
Joint contracture of the hand 0009473
Laryngeal web 0005950
Microtia
Small ears
Underdeveloped ears
[ more ]
0008551
Narrow forehead
Decreased width of the forehead
0000341
Nasal speech
Nasal voice
0001611
Natal tooth
Born with teeth
Teeth present at birth
[ more ]
0000695
Oligohydramnios
Low levels of amniotic fluid
0001562
Osteopathia striata 0010740
Overfolded helix
Overfolded ears
0000396
Paranasal sinus hypoplasia 0006784
Partial agenesis of the corpus callosum 0001338
Patent ductus arteriosus 0001643
Pectus excavatum
Funnel chest
0000767
Pierre-Robin sequence 0000201
Polyhydramnios
High levels of amniotic fluid
0001561
Sclerosis of skull base
Dense bone of skull base
0002694
Short stature
Decreased body height
Small stature
[ more ]
0004322
Straight clavicles
Straight collarbone
0006587
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
0001762
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
0000179
Thoracolumbar kyphosis 0005619
Tracheomalacia
Floppy windpipe
0002779
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Webbed neck
Neck webbing
0000465
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
0006610
X-linked dominant inheritance 0001423
Showing of 126 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021

Cause Cause


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Osteopathia striata with cranial sclerosis occurs when the AMER1 gene (previously known as the WTX gene) is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[4]
Last updated: 2/8/2021

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Statistics Statistics


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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.[5][6]
Last updated: 2/8/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes a large number of conditions with primary or secondary bone sclerosis. As the macrocephaly seems to be an early and constant clinical feature, OS-CS should be considered in the differential diagnosis of fetuses/infants with unexplained macrocephaly.
Visit the Orphanet disease page for more information.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Little People of America, Inc.
    617 Broadway #518
    Sonoma, CA 95476
    Toll-free: 1-888-572-2001
    Telephone: +1-714-368-3689
    Fax: +1-707-721-1896
    E-mail: info@lpaonline.org
    Website: https://www.lpaonline.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Osteopathia striata with cranial sclerosis. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Osteopathia striata - cranial sclerosis. Orphanet. October 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780.
  2. Quélin C1, Loget P, D'Hervé D, Fradin M, Milon J, Ferry M, Body-Bechou D, Tréguier C, Garcia Hoyos M, Odent S. Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology. Prenat Diagn. February 2015; 35(2):200-202.
  3. Zicari AM, Tarani L, Perotti D, Papetti L, Nicita F, Liberati N, et al. WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features. Ital J Pediatr. Jun 20, 2012; 38:27:https://pubmed.ncbi.nlm.nih.gov/22716240/.
  4. Mi J, Parthasarathy P, Halliday BJ, Morgan T, Dean J, Nowaczyk MJM, et al. Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis.. Genes (Basel). Nov 30, 2020; 11(12):1439. https://pubmed.ncbi.nlm.nih.gov/33265914/.
  5. Bach A, Mi J, Hunter M, Halliday BJ, García-Miñaúr S, Sperotto F, et al. Wilms tumor in patients with osteopathia striata with cranial sclerosis. Eur J Hum Genet. Sep 2, 2020; Epub ahead of print. https://pubmed.ncbi.nlm.nih.gov/32879452.
  6. Hague J, Delon I, Brugger K, Martin H, Sparnon L, Simonic I, et al. Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. Am J Med Genet A. Jul 2017; 173(7):1931-1935. https://pubmed.ncbi.nlm.nih.gov/28497491/.
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