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Disease Profile

Shprintzen-Goldberg craniosynostosis syndrome

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.8

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.

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 with arachnodactyly and abdominal hernias; Marfanoid disorder with craniosynostosis type 1; Marfanoid craniosynostosis syndrome;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary

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

Orpha Number: 2462

Definition
Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

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
Arachnodactyly
Spider fingers
Long slender fingers

[ more ]

0001166
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Hypertelorism
Widely spaced eyes
Wide-set eyes

[ more ]

0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Micrognathia
Little lower jaw
Small lower jaw
Small jaw

[ more ]

0000347
Muscular hypotonia
Low or weak muscle tone
0001252
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Telecanthus
Corners of eye widely separated
0000506
30%-79% of people have these symptoms
Abnormal aortic valve morphology
0001646
Camptodactyly of finger
Permanent flexion of the finger
0100490
Communicating hydrocephalus
0001334
Craniosynostosis
0001363
Frontal bossing
0002007
High forehead
0000348
Hypoplasia of the maxilla
Decreased size of upper jaw
Decreased size of maxilla
Small upper jaw
Small maxilla
Maxillary retrusion
Maxillary deficiency
Upper jaw retrusion
Upper jaw deficiency
Small upper jaw bones

[ more ]

0000327
Inguinal hernia
0000023
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Mitral regurgitation
0001653
Mitral valve prolapse
0001634
Pectus carinatum
Pigeon chest
0000768
Pectus excavatum
Funnel chest
0000767
Ptosis
Drooping upper eyelid
0000508
Scoliosis
0002650
Strabismus
Squint
Cross-eyed
Squint eyes

[ more ]

0000486
Umbilical hernia
0001537
5%-29% of people have these symptoms
Abnormal form of the vertebral bodies
0003312
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Anteverted nares
Nasal tip, upturned
Upturned nose
Upturned nasal tip
Upturned nostrils

[ more ]

0000463
Aplasia/Hypoplasia of the abdominal wall musculature
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles

[ more ]

0010318
Apnea
0002104
Arnold-Chiari malformation
0002308
Conductive hearing impairment
Conductive hearing loss
Conductive deafness

[ more ]

0000405
Cryptorchidism
Undescended testis
Undescended testes

[ more ]

0000028
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

0003042
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Gastroesophageal reflux
Heartburn
Acid reflux disease
Acid reflux

[ more ]

0002020
Genu valgum
Knock knees
0002857
Hyperextensible skin
Hyperelastic skin
Stretchable skin
Skin hyperelasticity

[ more ]

0000974
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Microcephaly
Decreased circumference of cranium
Abnormally small skull
Small head circumference
Reduced head circumference
Decreased size of skull

[ more ]

0000252
Missing ribs
Absent ribs
Decreased rib number

[ more ]

0000921
Myopia
Nearsightedness
Near sightedness
Near sighted
Close sighted

[ more ]

0000545
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Osteopenia
0000938
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Ventriculomegaly
0002119
1%-4% of people have these symptoms
Abdominal wall muscle weakness
0009023
Aortic aneurysm
Bulge in wall of large artery that carries blood away from heart

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.

    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

      • Genetics Home Reference (GHR) contains information on Shprintzen-Goldberg craniosynostosis syndrome. This website is maintained by the National Library of Medicine.

        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 Shprintzen-Goldberg craniosynostosis syndrome. Click on the link to view a sample search on this topic.

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