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

Shprintzen-Goldberg craniosynostosis syndrome



Other Names:
Craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid disorder with craniosynostosis type 1; Marfanoid craniosynostosis syndrome; Craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid disorder with craniosynostosis type 1; Marfanoid craniosynostosis syndrome; Shprintzen-Goldberg syndrome; Marfanoid-craniosynostosis syndrome; Shprintzen-Goldberg marfanoid syndrome See More
Categories:

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.
Last updated: 10/1/2016

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
Arachnodactyly
Long slender fingers
Spider 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
Wide-set eyes
Widely spaced 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
Small jaw
Little lower jaw
Small lower 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 maxilla
Maxillary deficiency
Decreased size of upper jaw
Upper jaw retrusion
Upper jaw deficiency
Small upper jaw bones
Small upper jaw
Small maxilla
Maxillary retrusion
[ 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 eyes
Squint
Cross-eyed
[ 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
Upturned nasal tip
Nasal tip, upturned
Upturned nostrils
Upturned nose
[ 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 deafness
Conductive hearing loss
[ 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
Acid reflux disease
Acid reflux
Heartburn
[ more ]
0002020
Genu valgum
Knock knees
0002857
Hyperextensible skin
Skin hyperelasticity
Hyperelastic skin
Stretchable skin
[ 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
Close sighted
Near sightedness
Near sighted
Nearsightedness
[ 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
0004942
Camptodactyly
Permanent flexion of the finger or toe
0012385
Dislocated radial head 0003083
Feeding difficulties in infancy 0008872
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Joint contracture of the hand 0009473
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
0001382
Low-set, posteriorly rotated ears 0000368
Metaphyseal widening
Broad wide portion of long bone
0003016
Obstructive sleep apnea 0002870
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ]
0011220
Shallow orbits
Decreased depth of eye sockets
Shallow eye sockets
[ more ]
0000586
Supernumerary ribs
Extra ribs
0005815
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
0001762
Percent of people who have these symptoms is not available through HPO
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
0000377
Arnold-Chiari type I malformation 0007099
Autosomal dominant inheritance 0000006
Brachyturricephaly
High, prominent forehead
0000244
C1-C2 vertebral abnormality 0008440
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
0000689
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Genu recurvatum
Back knee
Knee hyperextension
[ more ]
0002816
Global developmental delay 0001263
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
0001388
Lateral clavicle hook
Hook-shaped collarbone
0000895
Metatarsus adductus
Front half of foot turns inward
0001840
Minimal subcutaneous fat
Minimal fat below the skin
0003717
Narrow palate
Narrow roof of mouth
0000189
Sporadic
No previous family history
0003745
Thin ribs
Slender ribs
0000883
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
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Last updated: 7/1/2020

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.

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


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 Shprintzen-Goldberg craniosynostosis 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.

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

  • 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.

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.