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

Robinow syndrome


Other Names:
Robinow dwarfism; Fetal face syndrome; Acral dysostosis with facial and genital abnormalities; Robinow dwarfism; Fetal face syndrome; Acral dysostosis with facial and genital abnormalities; Covesdem syndrome (formerly); Costovertebral segmentation defect with mesomelia (formerly); Mesomelic dwarfism-small genitalia syndrome; Robinow-Silverman-Smith syndrome See More
Categories:
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]

Last updated: 9/28/2015

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
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
Split tongue
Forked tongue
[ more ] 		0010297
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Low nasal root
Flat, nasal bridge
Flattened nasal bridge
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
Increased length of eyelashes
Unusually long eyelashes
[ more ] 		0000527
Low-set ears
Low set ears
Lowset 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
Shortened nose
Decreased length of 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
Short penis
Small penis
[ more ] 		0000054
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Missing ribs
Absent ribs
Decreased rib number
[ more ] 		0000921
Nevus flammeus
port-wine stain
0001052
Pectus excavatum
Funnel chest
0000767
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Radial deviation of finger 0009466
Renal duplication
Extra kidney
0000075
Rib fusion
Fused ribs
0000902
Right ventricular outlet tract obstruction 0001705
Scoliosis 0002650
Short hard palate 0010290
Short middle phalanx of the 5th finger
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger
[ more ] 		0004220
Short palm 0004279
Thoracic hemivertebrae 0008467
Thoracolumbar scoliosis 0002944
Triangular mouth
Triangular shaped mouth
0000207
Umbilical hernia 0001537
Vertebral fusion
Spinal fusion
0002948
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
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
Robinow syndrome may be inherited in an autosomal recessive or autosomal dominant manner.[1]

Autosomal recessive (AR) inheritance means both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with AR Robinow syndrome usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically are unaffected. When two carriers of AR Robinow syndrome have children together, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not a carrier.

Autosomal dominant (AD) inheritance means that having only one mutated copy of the responsible gene in each cell is enough to cause features of the condition. Some people with AD Robinow syndrome inherit the mutated gene from an affected parent. In other cases, the mutation that causes the condition occurs for the first time in the affected person.[1] When a person with AD Robinow syndrome has children, each child has a 50% chance to inherit the mutated gene.
Last updated: 10/5/2015
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.
Last updated: 10/5/2015

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
The main differential diagnosis is RS with a different pattern of inheritance. Syndromes that commonly involve dysmorphic facial features similar to RS, particularly hypertelorism, along with genital hypoplasia such as Aarskog-Scott syndrome and Opitz G syndrome (see these terms) should also be considered. Chromosome abnormalities have occasionally been reported in patients with a Robinow-like phenotype. Similar costovertebral segmentation defects can be found in autosomal recessive spondylocostal dysostosis (ARSD) (see this term).
Visit the Orphanet disease page for more information.

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

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.

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

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 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.

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

  • I live in a family with Robinow syndrome and am the only child of my parents to not have it. What is the chance that I am a carrier of Robinow syndrome? See answer


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