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Disease Profile
Roberts syndrome
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.
Unknown
Age of onset
Neonatal
ICD-10
Q73.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
SC phocomelia syndrome (mild variant of Roberts syndrome); Roberts-SC phocomelia syndrome; Roberts tetraphocomelia syndrome;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Roberts
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 | ||
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 |
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 | |
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 |
Short fingers or toes
|
0001156 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
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 |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Long penis |
Enlarged penis
|
0000040 |
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 |
0001363 | ||
Finger |
0006101 | |
0000501 | ||
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Knee flexion |
0006380 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
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 |
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 |
Diagnosis The diagnosis of Roberts
The diagnosis of Roberts syndrome relies on a 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. Testing Resources
Related diseasesRelated 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.
OrganizationsSupport 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 moreThese 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
In-Depth Information
References
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