National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Occipital horn syndrome


Other Names:
OHS; Cutis laxa X-linked; Ehlers-Danlos syndrome, occipital horn type (formerly); OHS; Cutis laxa X-linked; Ehlers-Danlos syndrome, occipital horn type (formerly); EDS IX (formerly) See More
Categories:
This disease is grouped under:
Occipital horn syndrome (OHS) is a genetic condition that affects the connective tissue, skeleton, and nervous system. Symptoms of OHS usually begin in early childhood. They may include wedge-shaped calcium deposits at the base of the skull (occipital horns), loose skin and joints, and dysfunction of the nerves that regulate nonvoluntary body functions (dysautonomia). Other symptoms may include bladder diverticula, coarse hair, low muscle tone, and mild intellectual disability. This condition is a milder form of Menkes disease, which affects copper levels in the body. OHS is caused by genetic changes (DNA variants) in the ATP7A gene, and it is inherited in an x-linked recessive pattern. It can be diagnosed based on the symptoms, genetic testing, and other blood tests. Treatment for OHS is based on managing the symptoms.[1][2][3][4]  
Last updated: 5/14/2020
The following list includes the most common signs and symptoms in people with occipital horn syndrome. 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.

Signs and symptoms may include:[1][2]
  • Wedge shaped calcifications at the base of the skull (occipital horns)
  • Loose skin and joints
  • Bladder pouches (diverticula)
  • Blood vessel abnormalities
  • Dysautonomia (chronic diarrhea, orthostatic hypotension)
  • Mild cognitive deficits
  • Decreased muscle tone (hypotonia)
  • Hair abnormalities
The symptoms of occipital horn syndrome usually appear by early childhood. Most people with OHS have normal intelligence or only mild intellectual delay. Because this condition is so rare, there is not much information about how this condition affects people as they get older. There is some evidence that serious gastrointestinal, breathing, or bleeding complications can develop by early adulthood.[2][4] 
Last updated: 5/15/2020

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 88 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Delayed cranial suture closure 0000270
Exostoses
Formation of new noncancerous bone on top of existing bone
0100777
Global developmental delay 0001263
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] 		0000974
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Large fontanelles
Wide fontanelles
0000239
Specific learning disability 0001328
30%-79% of people have these symptoms
Abnormality of the sense of smell
Abnormal sense of smell
Smell defect
[ more ] 		0004408
Abnormality of the wrist
Abnormalities of the wrists
0003019
Brachydactyly
Short fingers or toes
0001156
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Dilatation
Wider than typical opening or gap
0002617
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Esophagitis
Inflammation of the esophagus
0100633
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Gastroparesis
Delayed gastric emptying
0002578
Hepatitis
Liver inflammation
0012115
Hiatus hernia
Stomach hernia
0002036
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Hypothermia
Abnormally low body temperature
0002045
Jaundice
Yellow skin
Yellowing of the skin
[ more ] 		0000952
Keloids 0010562
Long philtrum 0000343
Muscular hypotonia
Low or weak muscle tone
0001252
Osteomalacia
Softening of the bones
0002749
Osteopenia 0000938
Osteoporosis 0000939
Pectus carinatum
Pigeon chest
0000768
Pectus excavatum
Funnel chest
0000767
Platyspondyly
Flattened vertebrae
0000926
Poor suck
Poor sucking
0002033
Rickets
Weak and soft bones
0002748
Short palm 0004279
Synostosis of joints
Fusion of joints
0100240
Venous insufficiency
Poorly functioning veins
0005293
5%-29% of people have these symptoms
Abnormality of fibula morphology
Abnormality of the calf bone
0002991
Abnormality of the pubic bone
Abnormality of the pubic bones
Abnormality of the pubis
[ more ] 		0003172
Absent tibia
Absent shankbone
Absent shinbone
[ more ] 		0009556
Aplasia/hypoplasia of the humerus
Absent/small long bone in upper arm
Absent/underdeveloped long bone in upper arm
[ more ] 		0006507
Aplastic clavicle
Absent collarbone
0006660
Avascular necrosis of the capital femoral epiphysis 0005743
Bladder diverticulum 0000015
Coarse hair
Coarse hair texture
0002208
Coxa valga 0002673
Coxa vara 0002812
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Down-sloping shoulders
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ] 		0200021
Femoral hernia 0100541
Genu valgum
Knock knees
0002857
High forehead 0000348
Hip dislocation
Dislocated hips
Dislocation of hip
[ more ] 		0002827
Hip dysplasia 0001385
Humerus varus 0003874
Inguinal hernia 0000023
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Large iliac wings 0008818
Narrow chest
Low chest circumference
Narrow shoulders
[ more ] 		0000774
Osteolysis
Breakdown of bone
0002797
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] 		0000010
Scoliosis 0002650
Thick hair
Increased hair density
0100874
Percent of people who have these symptoms is not available through HPO
Bladder carcinoma 0002862
Broad clavicles
Broad collarbone
0000916
Broad ribs
Wide ribs
0000885
Capitate-hamate fusion 0001241
Carotid artery tortuosity 0005302
Chronic diarrhea 0002028
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] 		0000444
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hydronephrosis 0000126
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Limited elbow extension
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] 		0001377
Limited knee extension 0003066
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] 		0000276
Long neck
Elongated neck
Increased length of neck
[ more ] 		0000472
Narrow face
Decreased breadth of face
Decreased width of face
[ more ] 		0000275
Orthostatic hypotension
Decrease in blood pressure upon standing up
0001278
Pelvic bone exostoses 0003276
Persistent open anterior fontanelle 0004474
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] 		0001582
Short clavicles
Short collarbone
0000894
Short humerus
Short long bone of upper arm
Short upper arms
[ more ] 		0005792
Soft skin 0000977
Ureteral obstruction 0006000
X-linked recessive inheritance 0001419
Showing of 88 |
Last updated: 7/1/2020
Occipital horn syndrome (OHS) is caused by genetic changes (DNA variants) in the ATP7A gene. Variants in this gene can also cause a more severe form of OHS called Menkes syndrome.[1][3]
Last updated: 5/15/2020
Occipital horn syndrome is inherited in an X-linked recessive pattern.[1][5] X-linked means that the gene for the condition is located on the X-chromosome, one of the sex chromosomes. In males (who have only one X chromosome), one changed copy of the gene is enough to cause the condition. In females (who have two X chromosomes), a change needs to occur in both copies of the gene to cause the condition.

X-linked recessive conditions affect males much more frequently than females. Females, who have one changed gene, are called carriers. While, most female carriers have no signs or symptoms of the condition, in rare cases, female carriers may experience some mild signs or symptoms.

A female who carries one X-linked gene change has a 50% or 1 in 2 chance of having a son with the condition and a 50% chance of having a daughter who is also a carrier. A male with an X-linked recessive condition cannot pass on the disorder to his sons, but all of his daughters will be carriers.

Sometimes a male child is the first person in a family with the condition. In this case, the gene change may have been inherited from the mother, or the change may have occurred by chance for the first time in the child (de novo). 
Last updated: 5/15/2020
Occipital horn syndrome is diagnosed based on a clinical exam, the symptoms, and can be confirmed by genetic testing. Blood tests to check the level of copper and catecholamines can also be helpful.[1][3]
Last updated: 5/15/2020

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.
There is no specific treatment for occipital horn syndrome. Treatment is based on managing the symptoms.[1][3]

Specialists who may be involved in the care of someone with occipital horn syndrome include: 
  • Medical geneticist
  • Urologist
  • Neurologist
  • Nutritionist
Last updated: 5/15/2020
The exact incidence of occipital horn disease is unknown. It has been estimated that 1/100,000 – 1/300,000 babies are born with Menkes disease, the more serious form of this condition.[1] 
Last updated: 5/19/2020

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

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
Menkes disease is the main differential diagnosis. Other conditions to be considered include other forms of cutis laxa and Ehlers-Danlos syndrome (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Occipital horn syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Cutis Laxa Research Study
    University of Pittsburgh
    Dept. of Human Genetics
    A300 Crabtree Hall, GSPH
    130 De Soto Street
    Pittsburgh, PA 15261
    Telephone: 412-383-7369
    E-mail: cutislax@pitt.edu
    Website: http://www.cutislaxa.pitt.edu
    The Cutis Laxa Research Study is an ongoing project coordinated by the University of Pittsburgh. Their research focuses on identifying the genetic causes of cutis laxa in an effort to better understand the effect of gene mutations and develop new treatments. Use the provided contact information to 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.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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 Occipital horn syndrome. Click on the link to view a sample search on this topic.

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.

  1. Kaler S. ATP7A-Related Copper Transport Disorders. GeneReviews. Updated Aug. 18, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1413.
  2. Beyens A, Van Meensel K, Pottie L, De Rycke R, De Bruyne M et al. Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature. Genes (Basel). Jul 12, 2019; 10(7):528. https://pubmed.ncbi.nlm.nih.gov/31336972.
  3. Kodama H, Fujisawa C, Bhadhprasit W. Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment. Curr Drug Metab. 2012; 13(3):237-250. https://pubmed.ncbi.nlm.nih.gov/21838703.
  4. Kodama H, Fujisawa C, Bhadhprasit W. Pathology, clinical features and treatments of congenital copper metabolic disorders--focus on neurologic aspects. Brain Dev. 2011; 33(3):243-251. https://pubmed.ncbi.nlm.nih.gov/21112168.
  5. Daenais SL, Adam AN, Innis JW, Glover TW. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. Am J Hum Genet. 2001; 69(2):420-427. https://pubmed.ncbi.nlm.nih.gov/11431706/.