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Disease Profile

Lambdoid synostosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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US Estimated

Europe Estimated

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Craniosynostosis, lambdoidal

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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.

Symptoms

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.

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

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

    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

    • 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.