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Disease Profile

Robinow 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.

Unknown

Age of onset

Infancy

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ICD-10

Q87.1

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)

Robinow dwarfism; Fetal face syndrome; Acral dysostosis with facial and genital abnormalities;

Categories

Congenital and Genetic Diseases

Summary

Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity.

Autosomal recessive Robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis; fused or missing ribs; short stature; and distinctive facial features. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. This form is caused by mutations in the ROR2 gene.[1]

Autosomal dominant Robinow syndrome causes more mild, but similar, features. There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis. Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene.[1]

In some cases, the underlying cause of Robinow syndrome is unknown.[1] Management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children.[2]

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
1%-4% of people have these symptoms
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils
Upturned nose

[ more ]

0000463
Bifid tongue
Cleft tongue
Forked tongue
Split tongue

[ more ]

0010297
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal root
Low nasal bridge

[ more ]

0005280
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Long eyelashes
Unusually long eyelashes
Increased length of eyelashes

[ more ]

0000527
Low-set ears
Lowset ears
Low set ears

[ more ]

0000369
Nail dysplasia
Atypical nail growth
0002164
Narrow palate
Narrow roof of mouth
0000189
Oral cleft
Cleft of the mouth
0000202
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Rhizomelia
Disproportionately short upper portion of limb
0008905
Short neck
Decreased length of neck
0000470
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small hand
Disproportionately small hands
0200055
Thin upper lip vermilion
Thin upper lip
0000219
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Percent of people who have these symptoms is not available through HPO
Absent uvula
0010292
Aplasia/Hypoplasia involving the metacarpal bones
Absent/small long bones of hand
Absent/underdeveloped long bones of hand

[ more ]

0005914
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Bifid distal phalanx of toe
Notched outermost bones of toes
0001853
Brachydactyly
Short fingers or toes
0001156
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Broad toe
Wide toe
0001837
Clinodactyly
Permanent curving of the finger
0030084
Clitoral hypoplasia
Small clitoris
Underdeveloped clit

[ more ]

0000060
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Delayed cranial suture closure
0000270
Delayed eruption of permanent teeth
Delayed eruption of adult teeth
0000696
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth

[ more ]

0000678
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Duplication of the distal phalanx of hand
Duplication of the outermost bone of hand
Notched outermost bone of hand

[ more ]

0009883
Flat face
Flat facial shape
0012368
Frontal bossing
0002007
Gingival overgrowth
Gum enlargement
0000212
Global developmental delay
0001263
Hydronephrosis
0000126
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplastic labia majora
Small labia majora
Underdeveloped vaginal lips

[ more ]

0000059
Hypoplastic sacrum
Small sacrum
0004590
Inguinal hernia
0000023
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Long palpebral fissure
Broad opening between the eyelids
Long opening between the eyelids
Wide opening between the eyelids

[ more ]

0000637
Long philtrum
0000343
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue

[ more ]

0000158
Malar flattening
Zygomatic flattening
0000272
Mesomelia
Disproportionately short middle portion of limb
0003027
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Micropenis

Diagnosis

Genetic testing for autosomal recessive Robinow syndrome and autosomal dominant Robinow syndrome is available. However, not all people diagnosed with either type of Robinow syndrome have mutations in the genes known to cause these conditions. In these cases, the cause remains unknown. Carrier testing for autosomal recessive Robinow syndrome is possible if the disease-causing mutations have been identified in an affected family member.

The Genetic Testing Registry (GTR) provides information about the genetic tests for Robinow syndrome. 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.

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

      Organizations Providing General Support

        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

        • MedlinePlus Genetics contains information on Robinow 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. 
            Autosomal dominant Robinow syndrome-1 (DRS1)
            Autosomal recessive Robinow syndrome (RRS)
          • 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 Robinow syndrome. Click on the link to view a sample search on this topic.

            References

            1. Robinow syndrome. Genetics Home Reference. September, 2015; https://ghr.nlm.nih.gov/condition/robinow-syndrome.
            2. Juliana MAZZEU. Robinow syndrome. Orphanet. May, 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360.

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