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

Roberts syndrome


Other Names:
SC phocomelia syndrome (mild variant of Roberts syndrome); Roberts-SC phocomelia syndrome; Roberts tetraphocomelia syndrome; SC phocomelia syndrome (mild variant of Roberts syndrome); Roberts-SC phocomelia syndrome; Roberts tetraphocomelia syndrome; Pseudothalidomide syndrome; Appelt-Gerken-Lenz syndrome; Hypomelia hypotrichosis facial hemangioma syndrome; Tetraphocomelia-cleft palate syndrome; Roberts syndrome/SC phocomelia; Long bone deficiencies associated with cleft lip-palate; RBS See More
Categories:
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (contractures); and numerous facial abnormalities including cleft lip with or without cleft palate; micrognathia; ear abnormalities; hypertelorism; down-slanting palpebral fissures; small nostrils; and a beaked nose. Microcephaly, intellectual disability, and heart, kidney or genital abnormalities may also be present. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth, while mildly affected individuals may live into adulthood. It is caused by mutations in the ESCO2 gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 2/11/2011

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
Aplasia/Hypoplasia of the thumb
Absent/small thumb
Absent/underdeveloped thumb
[ more ] 		0009601
Bowing of the long bones
Bowed long bones
Bowing of long bones
[ more ] 		0006487
Brachycephaly
Short and broad skull
0000248
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Complete duplication of thumb phalanx
Complete duplication of thumb bones
0009943
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Malar flattening
Zygomatic flattening
0000272
Mesomelic arm shortening 0005011
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Phocomelia 0009829
Postnatal growth retardation
Growth delay as children
0008897
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Radial deviation of finger 0009466
Severe intrauterine growth retardation
Severe prenatal growth deficiency
0008846
Sparse hair 0008070
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
30%-79% of people have these symptoms
Abnormality of cardiovascular system morphology 0030680
Absent earlobe
Earlobe, absent
Lobeless ears
[ more ] 		0000387
Brachydactyly
Short fingers or toes
0001156
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Clitoral hypertrophy
Enlarged clitoris
0008665
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
External ear malformation 0008572
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Long penis
Enlarged penis
0000040
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Midface capillary hemangioma 0007452
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ] 		0001622
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Radioulnar synostosis
Fused forearm bones
0002974
Underdeveloped supraorbital ridges
Flattened bony protrusion above eyes
0009891
5%-29% of people have these symptoms
Bilateral single transverse palmar creases 0007598
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Craniosynostosis 0001363
Finger syndactyly 0006101
Glaucoma 0000501
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Knee flexion contracture 0006380
Microphthalmia
Abnormally small eyeball
0000568
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Patellar aplasia
Absent kneecap
0006443
Polycystic kidney dysplasia 0000113
Polyhydramnios
High levels of amniotic fluid
0001561
Progressive flexion contractures 0005876
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] 		0001852
Short neck
Decreased length of neck
0000470
Stillbirth
Stillborn
0003826
Synostosis of carpal bones
Fusion of wrist bones
0005048
Thrombocytopenia
Low platelet count
0001873
Wrist flexion contracture 0001239
Percent of people who have these symptoms is not available through HPO
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Accessory spleen 0001747
Ankle flexion contracture 0006466
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 recessive inheritance 0000007
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus
[ more ] 		0000813
Biliary tract abnormality 0001080
Cafe-au-lait spot 0000957
Clinodactyly
Permanent curving of the finger
0030084
Coloboma
Notched pupil
0000589
Cranial nerve paralysis 0006824
Cystic hygroma 0000476
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] 		0002987
Enlarged labia minora 0008683
Eyelid coloboma
Cleft eyelid
Notched eyelid
[ more ] 		0000625
Frontal encephalocele 0007330
Hand oligodactyly
Hand has less than 5 fingers
0001180
Horseshoe kidney
Horseshoe kidneys
0000085
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypospadias 0000047
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Narrow naris
Narrow nostrils
Slit-like nostrils
Small nostrils
Thin nostrils
[ more ] 		0009933
Opacification of the corneal stroma 0007759
Patent ductus arteriosus 0001643
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Premature separation of centromeric heterochromatin 0003616
Shallow orbits
Decreased depth of eye sockets
Shallow eye sockets
[ more ] 		0000586
Syndactyly
Webbed fingers or toes
0001159
Talipes equinovalgus 0001772
Tetraphocomelia 0030721
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
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Last updated: 7/1/2020
The diagnosis of Roberts syndrome is suspected in individuals with the following:
  • Prenatal growth delay ranging from mild to severe. Average birth length and weight is typically below the third percentile in most affected infants.
  • Limb malformations including bilateral, symmetric tetraphocomelia (phocomelia of all 4 limbs) or hypomelia (underdevelopment of the limbs) caused by mesomelic shortening (shortening of the middle part of the limb). Upper limbs are typically more severely affected than lower limbs. Other limb malformations include oligodactyly with thumb aplasia (lack of formation) or hypoplasia (underdevelopment), syndactyly, clinodactyly, and elbow and knee flexion contractures (inability to fully straighten the arms and legs).
  • Craniofacial abnormalities including bilateral cleft lip and/or palate, micrognathia (small jaw), hypertelorism (widely-spaced eyes), exophthalmos (bulging eyes), downslanting palpebral fissures, malar hypoplasia (underdeveloped cheek bones), hypoplastic nasal alae, and ear malformations.
The diagnosis of Roberts syndrome relies on a cytogenetic blood test of individuals with the above features. Cytogenetic testing would show the characteristic chromosomal abnormalities that are present in individuals with the condition.[2]
Last updated: 5/27/2011

Genetic testing is currently available for Roberts syndrome. GeneTests lists the names of laboratories that are performing genetic testing for Roberts syndrome. To view the contact information for the clinical laboratories conducting testing click here. To access the contact information for the research laboratories performing genetic testing, click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 2/11/2011

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

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
Differential diagnoses include thalidomide embryopathy, and the Baller-Gerold, Cornelia de Lange and TAR syndromes (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

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

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 Roberts 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

  • 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 Roberts 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

  • What is the difference between Roberts syndrome and tetra-amelia syndrome? How can my condition be diagnosed? See answer


  1. Roberts syndrome. Genetics Home Reference. January 2009; http://ghr.nlm.nih.gov/condition/roberts-syndrome. Accessed 2/11/2011.
  2. Miriam Gordillo, Hugo Vega, Ethylin Wang Jabs. Roberts Syndrome. GeneReviews. April 14, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1153/. Accessed 2/11/2011.