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

Lambdoid synostosis



Other Names:
Craniosynostosis, lambdoidal
Categories:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 3267

Definition
Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2018

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
Flat occiput 0005469
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
0001357
Stomatocytosis 0004446
30%-79% of people have these symptoms
External ear malformation 0008572
Muscular hypotonia
Low or weak muscle tone
0001252
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ]
0011220
5%-29% of people have these symptoms
Anterior plagiocephaly
Anterior flat head syndrome
0011326
Blepharophimosis
Narrow opening between the eyelids
0000581
Dimple chin
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ]
0010751
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth
[ more ]
0002714
Ectopic posterior pituitary 0011755
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
0000324
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypertonia 0001276
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Optic nerve hypoplasia 0000609
Pansynostosis 0011325
Protruding ear
Prominent ear
Prominent ears
[ more ]
0000411
Round ear 0100830
Short nose
Decreased length of nose
Shortened nose
[ more ]
0003196
Telecanthus
Corners of eye widely separated
0000506
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Diminished ability to concentrate
Poor concentration
0031987
Frontal bossing 0002007
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Lambdoidal craniosynostosis 0004443
Malar flattening
Zygomatic flattening
0000272
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
0011800
Posterior plagiocephaly 0011327
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
0000278
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Last updated: 7/1/2020

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


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


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

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Lambdoid synostosis. Click on the link to view a sample search on this topic.

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