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

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

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.

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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 |

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Last updated: 2/1/2021

Cause Cause

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

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

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

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Find a Specialist Find a Specialist

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

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

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/

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Learn More Learn More

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.

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Rare Disease Day at NIH 2021
March 1, 2021

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References References

Osteopathia striata - cranial sclerosis. Orphanet. October 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780.
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.
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/.
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/.
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.
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/.