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

Schinzel Giedion syndrome

Schinzel Giedion syndrome (SGS) is a rare, severe condition that is present from birth and affects many parts of the body. Features of SGS include severe intellectual disability; a distinctive facial appearance; excessive hair growth (hypertrichosis); and various birth defects that may affect the skeletal system, genitourinary system; kidneys; and heart. Affected children usually do not survive beyond a few years after birth.[1] SGS is caused by a mutation in the SETBP1 gene. The mutation is not inherited from a parent, but occurs for the first time in the affected child (a de novo mutation).[2] Treatment is based on symptoms and consists of palliative care.[3]
Last updated: 5/23/2016
The signs and symptoms of Schinzel Giedion syndrome (SGS) are present from birth (congenital). The specific features can vary among affected children, but are generally severe. Recurrent infections and respiratory failure are common, and most children with SGS do not live beyond a few years after birth.[1]

Features in children with SGS may include:
  • a distinctive facial appearance including a prominent forehead; "flatness" of the middle part of the face (midface retraction); and a short upturned nose[3]
  • hydronephrosis
  • severe developmental delay and intellectual disability[3][1]
  • skeletal (bone) malformations such as short limbs; valgus or varus foot deformity (the foot is twisted outward or inward, respectively); skull abnormalities; or broad ribs[3][1]
  • genitourinary abnormalities such as undescended testicle(s); abnormally small penis; hypospadias; small uterus; underdeveloped inner and outer labia (folds) of the vagina; or displaced anus[3]
  • heart defects such as septal defects (affecting the dividing walls of the heart); valve abnormalities; hypoplastic ventricles (underdeveloped bottom chambers of the heart) or patent ductus arteriosus[3]
  • seizures[3]
  • visual or hearing impairment[3]
  • increased risk of tumors[3]
  • excessive hair growth (hypertrichosis)[3]
  • nail abnormalities[3]
Last updated: 5/24/2016

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.

Showing of 121 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Broad forehead
Increased width of the forehead
Wide forehead
[ more ] 		0000337
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] 		0000455
Frontal bossing 0002007
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Profound global developmental delay 0012736
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
30%-79% of people have these symptoms
Abnormal heart morphology
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] 		0001627
Abnormality of the helix 0011039
Broad ribs
Wide ribs
0000885
Facial hemangioma 0000329
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ] 		0001531
Generalized hypertrichosis 0004554
Hydronephrosis 0000126
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] 		0000158
Narrow forehead
Decreased width of the forehead
0000341
Shallow orbits
Decreased depth of eye sockets
Shallow eye sockets
[ more ] 		0000586
Short distal phalanx of finger
Short outermost finger bone
0009882
Short neck
Decreased length of neck
0000470
Ventriculomegaly 0002119
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
5%-29% of people have these symptoms
Abnormal cochlea morphology 0000375
Abnormality of the clavicle
Abnormal collarbone
0000889
Abnormality of the gingiva
Abnormality of the gums
0000168
Abnormality of the stapes 0008628
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Alacrima
Absence of tears in the eyes
Absent tear secretion
[ more ] 		0000522
Annular pancreas 0001734
Anteriorly placed anus 0001545
Arnold-Chiari type I malformation 0007099
Broad alveolar ridges 0000187
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Choanal stenosis
Narrowing of the rear opening of the nasal cavity
0000452
Choroid plexus cyst 0002190
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] 		0000684
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypoplastic pubic bone 0003173
Infantile sensorineural hearing impairment 0008610
Kyphoscoliosis 0002751
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Neural tube defect 0045005
Overlapping fingers 0010557
Overlapping toe
Overlapping toes
Overriding toes
[ more ] 		0001845
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ] 		0002089
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Sclerosis of skull base
Dense bone of skull base
0002694
Short 1st metacarpal
Shortened 1st long bone of hand
0010034
Streak ovary 0010464
Tibial bowing
Bowed shankbone
Bowed shinbone
[ more ] 		0002982
Umbilical hernia 0001537
Wormian bones
Extra bones within cranial sutures
0002645
1%-4% of people have these symptoms
Abnormality of the ureter 0000069
Camptodactyly
Permanent flexion of the finger or toe
0012385
Central hypothyroidism 0011787
Coarse facial features
Coarse facial appearance
0000280
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Ependymoma 0002888
Epileptic spasm 0011097
Gastrostomy tube feeding in infancy 0011471
Hepatoblastoma 0002884
Hypoplasia of the epiglottis 0005349
Hypospadias 0000047
Hypsarrhythmia 0002521
Inguinal hernia 0000023
Large earlobe
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ] 		0009748
Laryngomalacia
Softening of voice box tissue
0001601
Micropenis
Short penis
Small penis
[ more ] 		0000054
Myeloid leukemia 0012324
Nephroblastoma 0002667
Nephrolithiasis
Kidney stones
0000787
Radioulnar synostosis
Fused forearm bones
0002974
Recurrent pneumonia 0006532
Renal cyst
Kidney cyst
0000107
Sacrococcygeal teratoma 0030736
Short philtrum 0000322
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Splenopancreatic fusion 0032075
Stiff elbow
Elbow stiffness
0025259
Vocal cord paralysis
Inability to move vocal cords
0001605
Percent of people who have these symptoms is not available through HPO
Abnormality of the nasopharynx 0001739
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Aplasia/Hypoplasia of the pubic bone
Absent/small pubic bones
Absent/underdeveloped pubic bones
Hypoplastic/aplastic pubic bones
[ more ] 		0009104
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Autosomal dominant inheritance 0000006
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus
[ more ] 		0000813
Cerebral atrophy
Degeneration of cerebrum
0002059
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
High forehead 0000348
Hydroureter 0000072
Hyperconvex nail
Increased nail curvature
Nail overcurvature
[ more ] 		0001795
Hypertrichosis 0000998
Hypoplasia of first ribs
Small first rib
Underdeveloped first rib
[ more ] 		0006657
Hypoplastic labia majora
Small labia majora
Underdeveloped vaginal lips
[ more ] 		0000059
Hypoplastic labia minora
Underdeveloped inner lips
0000064
Hypoplastic nipples
Small nipples
0002557
Increased density of long bones 0006392
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Long clavicles
Long collarbone
0000890
Malar flattening
Zygomatic flattening
0000272
Metopic suture patent to nasal root 0005495
Opisthotonus 0002179
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] 		0001162
Postnatal growth retardation
Growth delay as children
0008897
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ] 		0011220
Scrotal hypoplasia
Smaller than typical growth of scrotum
0000046
Seizure 0001250
Short sternum 0000879
Single transverse palmar crease 0000954
Sloping forehead
Inclined forehead
Receding forehead
[ more ] 		0000340
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Teratoma 0009792
Thickened cortex of long bones 0000935
Ureteral stenosis
Narrowing of the ureter
0000071
Wide distal femoral metaphysis
Broad outermost wide portion of thighbone
0006387
Widely patent fontanelles and sutures 0004492
Showing of 121 |
Last updated: 7/1/2020
Schinzel Giedion syndrome (SGS) is caused by having a mutation in one copy of the SETBP1 gene. The mutation is not inherited from a parent - it occurs for the first time in affected people.[3][2] This is called a de novo mutation. There is nothing either parent can do, or not do, before or during a pregnancy to cause a child to have SGS.

The SETBP1 gene gives the body instructions to make a protein (called SET binding protein 1), which is present in cells throughout the body.[4] However, to our knowledge, the job of this protein is poorly understood and it is not yet known why mutations in this particular gene cause the features of SGS.
Last updated: 5/24/2016

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.
Schinzel Giedion syndrome (SGS) is a life-threatening disorder. Most children with SGS do not live past infancy or early childhood due to progressive neurodegeneration, recurrent infections and respiratory failure. Few children survive longer, although survival to adolescence has been reported.[3]
Last updated: 5/24/2016

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
Other conditions with the distinctive midface retraction that could be considered in the differential diagnosis include fetal hydantoin, fetal warfarin syndromes, Zellweger syndrome, mucopolysaccharidosis, gangliosidosis, and rhizomelic chondrodysplasia punctata, as well as congenital hypothyroidism (see these terms).
Visit the Orphanet disease page for more information.

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 Schinzel Giedion syndrome. This website is maintained by the National Library of Medicine.
  • 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 Schinzel Giedion 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. Submit a new question

  • My daughter is one month old and has been diagnosed with Schinzel-Giedion syndrome. Since this is rare and not many cases have been found we are limited to information. I would like to know where to find any and all information on this syndrome to better care for my daughter. Thank you. See answer


  1. Herenger Y et. al. Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations. Eur J Med Genet. September, 2015; 58(9):479-487.
  2. Marla J. F. O'Neill. SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME. OMIM. May 12, 2011; http://www.omim.org/entry/269150.
  3. Albert Schinzel. Schinzel-Giedion syndrome. Orphanet. April, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798.
  4. SETBP1. Genetics Home Reference. January, 2012; https://ghr.nlm.nih.gov/gene/SETBP1.