Clinical Diagnosis

The diagnosis of ROR2-related Robinow syndrome is based on the presence of characteristic facies, short stature, limb defects, and genital abnormalities.

Clinical features that may be present include the following:

• Characteristic facial appearance in early childhood [Tufan et al 2005, Brunetti-Pierri et al 2008 (click here for full text)]:

  • Macrocephaly

  • Broad prominent forehead

  • Marked ocular hypertelorism

  • Prominent eyes with apparent exophthalmos resulting from deficiency of the lower eyelid that gives the eyes a more prominent appearance

  • Midface hypoplasia

  • Short upturned nose with depressed nasal bridge and flared nostrils

  • Large and triangular mouth, usually with tethering of the upper lip in the center so it appears like an inverted V and exposes the incisors and upper gum

  • Cleft lip and/or cleft palate

  • Gum hypertrophy

  • Crowded and misaligned teeth

  • Ankyloglossia, with bifid tongue in severe cases

  • Micrognathia

  • Simple, low-set ears, which can be posteriorly rotated

• Skeletal abnormalities

  • Short stature with growth retardation. Birth length is reduced; height was consistently 2SD or more below the mean in one series [Soliman et al 1998].

  • Mesomelic or acromesomelic limb shortening, mostly in the forearms

  • Brachydactyly with shortening of the distal phalanx, especially the second and fifth digit; maldevelopment of the hands by clefting of the distal phalanx of the thumb and occasionally other distal phalanges; variable soft-tissue syndactyly involving two or more digits

  • Hemivertebrae with fusion of thoracic vertebrae; ribs usually fused or absent [Patton & Afzal 2002, Tufan et al 2005]

• Genital hypoplasia: In males, micropenis with normal scrotum and testes, or cryptorchidism; in females, reduced clitoral size and hypoplasia of the labia majora

• Renal tract abnormalities, usually hydronephrosis; occasionally cystic dysplasia associated with the genital abnormalities

• Congenital heart defect in 15%, pulmonary valve stenosis and a wide range of other cardiac malformations [Al-Ata et al 1998]

• Nail hypoplasia or dystrophy

• Developmental delay in 10%-15%

Molecular Genetic Testing

Gene. ROR2 is the gene in which mutations cause autosomal recessive ROR2-related Robinow syndrome.

Clinical testing

• Sequence analysis. ROR2-related Robinow syndrome is caused by missense, nonsense, or frameshift mutations distributed throughout the gene, affecting the regions encoding both the extracellular and the intracellular domains of the protein. Because ROR2-related Robinow syndrome is most frequently reported in consanguineous populations such as the Omani and Turks, most affected individuals reported to date are homozygous for the disease-causing mutation; however, compound heterozygotes have been reported [Tufan et al 2005].
  
  Van Bokhoven et al [2000] reported mutations in seven of 11 families (by analysis of exons 2-9 only) and Afzal et al [2000] reported mutations in ten of ten families investigated.

• Deletion/duplication analysis. The frequency of exonic or whole-gene deletions and duplications in this disorder is not known; exonic deletions have been reported in the literature [Tufan et al 2005, Brunetti-Pierri et al 2008].

Table 1. Summary of Molecular Genetic Testing Used in ROR2-Related Robinow Syndrome

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Gene Symbol	Test Method	Mutations Detected	Mutation Detection Frequency 1	Test Availability
ROR2	Sequence analysis	Sequence variants 2	7/11 families 3, 10/10 families 4	Clinical
	Deletion / duplication analysis 5	Exonic or whole-gene deletions	Unknown 6

Test Availability refers to availability in the GeneTests Laboratory Directory. GeneReviews designates a molecular genetic test as clinically available only if the test is listed in the GeneTests Laboratory Directory by either a US CLIA-licensed laboratory or a non-US clinical laboratory. GeneTests does not verify laboratory-submitted information or warrant any aspect of a laboratory's licensure or performance. Clinicians must communicate directly with the laboratories to verify information.

1. The ability of the test method used to detect a mutation that is present in the indicated gene

2. Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations.

3. Van Bokhoven et al [2000]

4. Afzal et al [2000]

5. Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; a variety of methods including quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), or targeted array GH (gene/segment-specific) may be used. A full array GH analysis that detects deletions/duplications across the genome may also include this gene/segment. See array GH.

6. Frequency is unknown, but exonic deletions have been reported [Brunetti-Pierri et al 2008]

Interpretation of test results. For issues to consider in interpretation of sequence analysis results, click here.

Information on specific allelic variants may be available in Molecular Genetics (see Table A and/or Pathologic allelic variants).

Note: (1) It is important to determine if the mode of inheritance is autosomal recessive based on the clinical phenotype and family history. (2) Reduced mutation detection rate may result from the difficulty in distinguishing between autosomal recessive and autosomal dominant inheritance in a family, undetected promoter mutations, or undetected partial or whole-gene deletions and/or locus heterogeneity.

Testing Strategy

Confirmation of the diagnosis in a proband includes sequence analysis of ROR2. If no mutation or only one mutation is identified, deletion/duplication analysis should be carried out.

If autosomal dominant Robinow syndrome is suspected, WNT5A mutation studies could be considered, but currently such testing is not available on a clinical basis. The autosomal dominant form of Robinow is typically less severe than the autosomal recessive form (see Differential Diagnosis).

Carrier testing for at-risk relatives requires prior identification of the disease-causing mutations in the family. Note: Carriers are heterozygotes for this autosomal recessive disorder and display findings consistent with brachydactyly type B1.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the disease-causing mutations in the family.

Note: It is the policy of GeneReviews to include clinical uses of testing available from laboratories listed in the GeneTests Laboratory Directory; inclusion does not necessarily reflect the endorsement of such uses by the author(s), editor(s), or reviewer(s).

Genetically Related (Allelic) Disorders

Brachydactyly type B1 (BDB1) is caused by heterozygous truncating mutations (nonsense and frameshift) in ROR2. Mutations causing BDB1 are located in exons 8 and 9 and affect the intracellular portion of the ROR2 protein [Oldridge et al 2000, Schwabe et al 2000].

BDB1 affects the fourth and fifth digits more severely with shortening of the middle phalanges and absence of the terminal phalanges. Affected individuals may show mildly abnormal facial features including wide-spaced eyes, downslanting palpebral fissures, short philtrum, and prominent nose. Inheritance is autosomal dominant.

Natural History

Facial features. Facies are characteristic at birth and in early childhood (see Clinical Diagnosis). The face in early childhood resembles a fetal face at eight weeks' gestation; this becomes less noticeable with age. Accelerated growth of the nose in adolescence gives the face a more normal appearance, but the broad forehead, broad nasal root, and ocular hypertelorism persist into adulthood.

Dental problems, including wide retromolar ridge, alveolar ridge deformation, malocclusion, dental crowding and hypodontia are also common in Robinow syndrome. Dental abnormalities tend to be more severe in the autosomal dominant forms of Robinow compared to recessive forms.

Hyperplastic gingival tissues may also interfere with dental eruption and orthodontic treatments [Grothe et al 2008, Beiraghi et al 2011.

Skeletal abnormalities. Short stature is almost always present in childhood and persists into adulthood; however, the final degree of short stature may be mild [Tufan et al 2005].

The forearms are more noticeably affected by mesomelic or acromesomelic shortening than the lower limbs, often with radioulnar dislocation.

The phalanges and carpal bones may be fused. Partial cutaneous syndactyly or ectrodactyly (i.e., split hand) may be seen. Hand function is not severely affected.

Kyphoscoliosis is often severe. The chest may be deformed and ribs are often fused, as in spondylocostal dysostosis; some ribs may even be absent. Primary lung function is normal, but changes in the chest wall and thoracic vertebrae may reduce cough effort and predispose to respiratory infections [Sleesman & Tobias 2003].

Urogenital abnormalities. At birth, the genitalia are abnormal, sometimes leading (primarily in males) to issues related to sex assignment. In females, clitoral size is reduced; labia majora may be hypoplastic. In males, the penis is small; scrotum and testes are normal. Cryptorchidism has been reported.

Wilcox et al [1997] determined that in Robinow syndrome the penis is buried inferiorly and posteriorly within the scrotum because the penile crura insert inferiorly and posteriorly onto the medial aspect of the ischial tuberosity (rather than onto the anteromedial aspect of the pubic bone). Thus, a normal-sized penis appears shorter and inferiorly placed in the scrotum.

Endocrine investigations are usually normal; however Soliman et al [1998] reported low basal serum testosterone concentration and low testosterone response to human chorionic gonadotrophin stimulation in boys. Puberty is usually normal.

Renal abnormalities may be associated with the genital abnormalities. Hydronephrosis is common and cystic dysplasia of the kidney has been reported.

Cardiac abnormalities. In addition to pulmonary valve stenosis or atresia, cardiac defects include atrial septal defect, ventricular septal defect, coarctation of the aorta, tetralogy of Fallot, and tricuspid atresia [Al-Ata et al 1998]. Congenital heart defects are the major cause of early death.

Intelligence is usually normal; developmental delay occurs in 10%-15% of individuals with Robinow syndrome.

Growth hormone (GH) deficiency has been reported in Robinow syndrome [Castells et al 1999, Kawai et al 1997].

Genotype-Phenotype Correlations

Mutations in ROR2 cause dominant brachydactyly type B (BDB1) or recessive Robinow syndrome (RRS), each characterized by a distinct combination of phenotypic features. Studies have shown a correlation between the severity of BDB1, the location of the mutation, and the amount of membrane-associated ROR2. Membrane protein fraction quantification revealed that a gradient of distribution and stability correlated with the clinical phenotypes. This gradual model was confirmed by crossing mouse models for RRS and BDB1, yielding double-heterozygous animals that exhibited an intermediate phenotype. The researchers proposed that the phenotype (i.e., RRS vs BDB1) is determined by the relative degree of protein retention/degradation and the amount of mutant protein reaching the plasma membrane [Schwarzer et al 2009].

ROR2-related Robinow syndrome is caused by homozygous or compound heterozygous mutations in both intracellular and extracellular domains encoded by exons 3, 5, 7, 8, and 9.

Brachydactyly type B1, in contrast, is caused by heterozygous truncating mutations in the interdomain regions of the intracellular portion of the ROR2 protein encoded by exons 8 and 9, predicted to cause gain of function [Oldridge et al 2000, Schwabe et al 2000].

Nomenclature

Other names by which Robinow syndrome has been known in the past:

• Costovertebral segmentation defect with mesomelia (COVESDEM): this name is no longer used because it causes confusion with similar vertebral defect syndromes, and in ROR2-related Robinow syndrome, acromesomelia as well as mesomelia is present.

• Robinow-Silverman syndrome

Prevalence

Prevalence is not known.

ROR2-related Robinow syndrome is rare. Over 100 cases have been reported in the literature. It commonly occurs in consanguineous families, for example, those of Turkish and Omani origin.

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with ROR2-related Robinow syndrome, the following evaluations are recommended:

• Orofacial assessment to determine the need for plastic surgery (presence of cleft lip and/or cleft palate )

• Dental assessment for misaligned, crowded teeth

• Clinical and radiographic evaluation of the spine and rib cage to assess the severity of kyphoscoliosis and vertebral and rib anomalies, as these can lead to postural and respiratory complications [Wilcox et al 1997]

• Radiographic documentation of the forearm shortening and hand anomalies

• Assessment of micropenis for reconstructive surgery if due to penoscrotal transposition

• Endocrine investigation to explore possible: (1) gonadotropin and testosterone deficiencies amenable to treatment in males with micropenis; and (2) growth hormone deficiency

• Renal ultrasound examination

• Echocardiogram to evaluate for structural heart defects

Treatment of Manifestations

Corrective surgeries may be required for:

• Syndactyly repair;

• Severe scoliosis secondary to hemivertebrae and rib abnormalities;

• Cleft lip and cleft palate repair.

Although it was not possible to detach the abnormal insertion of the penile crura, which can cause a normal-sized penis to be buried in the scrotum and thus appear small (see Clinical Description), Wilcox et al [1997] improved the cosmetic appearance by transposing the scrotum downward.

Injection of human chorionic gonadotrophin and testosterone therapy improved penile length and testicular volume in three boys with severe micropenis [Soliman et al 1998]. Hormone therapy should be monitored by a pediatric endocrinologist.

Orthodontic treatment is usually required

Growth hormone deficiency in children with Robinow syndrome responds to growth hormone therapy [Castells et al 1999].

Prevention of Secondary Complications

The perioperative management of individuals with Robinow syndrome should include [MacDonald & Dearlove 1995, Lirk et al 2003, Sleesman & Tobias 2003]:

• Preoperative radiologic assessment of the vertebrae and ribs because of the risk for respiratory complications;

• Preoperative cardiac evaluation for the presence of congenital heart defects;

• Awareness that endotracheal intubation may be difficult as a result of the midface hypoplasia.

Because growth hormone therapy can exacerbate scoliosis, progression of the spinal curve needs to be monitored during the course of therapy.

Surveillance

• Scoliosis surveillance in childhood, and through adolescence, until growth is completed.

• Surveillance of growth in childhood for evidence of growth hormone deficiency.

Testing of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Other

Genetics clinics, staffed by genetics professionals, provide information for individuals and families regarding the natural history, treatment, mode of inheritance, and genetic risks to other family members as well as information about available consumer-oriented resources. See the GeneTests Clinic Directory.

See Consumer Resources for disease-specific and/or umbrella support organizations for this disorder. These organizations have been established for individuals and families to provide information, support, and contact with other affected individuals.

Mode of Inheritance

ROR2-related Robinow syndrome is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

• The parents of an affected child are obligate heterozygotes and therefore carry one mutant allele.

• Heterozygotes (carriers) display findings consistent with brachydactyly type B1. [Oldridge et al 2000, Schwabe et al 2000].

• Molecular testing of parents could be considered for confirmation studies and for future prenatal testing purposes.

Sibs of a proband

• At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being a heterozygote (carrier) and usually asymptomatic, and a 25% chance of being unaffected and not a carrier.

• Once it is determined that an at-risk sib does not have Robinow syndrome, the risk of his/her being a carrier (and having brachydactyly type B1) is 2/3.

Offspring of a proband

• The offspring of an individual with Robinow syndrome are obligate heterozygotes (carriers) for a disease-causing ROR2 mutation.

• The risk that the offspring of a proband will be affected is small unless the reproductive partner is related to the proband or has a family history of ROR2-related Robinow syndrome.

Other family members of a proband. Each sib of the proband's parents is at a 50% risk of being a carrier.

Carrier Detection

Carrier testing for at-risk family members is possible if the disease-causing mutations have been identified in the family.

Related Genetic Counseling Issues

See Management, Testing of Relatives at Risk for information on testing at-risk relatives for the purpose of early diagnosis and treatment.

Family planning

• The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.

• It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, mutations, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals. See for a list of laboratories offering DNA banking.

Prenatal Testing

Molecular genetic testing. Prenatal diagnosis for pregnancies at increased risk for ROR2-related Robinow syndrome is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at about 15 to 18 weeks' gestation or chorionic villus sampling (CVS) at about ten to 12 weeks' gestation. Both disease-causing alleles of an affected family member must be identified before prenatal testing can be performed.

Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period or by ultrasound measurements.

Ultrasonagraphy. High-resolution ultrasound examination may detect skeletal and cardiac abnormalities in high-risk pregnancies [Percin et al 2001]. Real-time ultrasound may also detect in affected fetus: increased nuchal translucency, reduced humerus and femur length, shortening of the forearms, frontal bossing, mild hypertelorism, reduced thoracic perimeter, and hemivertebrae at the thoracic level [Percin et al 2001, Guven et al 2006].

Preimplantation genetic diagnosis (PGD) may be available for families in which the disease-causing mutations have been identified. For laboratories offering PGD, see .

Note: It is the policy of GeneReviews to include clinical uses of testing available from laboratories listed in the GeneTests Laboratory Directory; inclusion does not necessarily reflect the endorsement of such uses by the author(s), editor(s), or reviewer(s).

Literature Cited

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2. Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tuysuz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet. 2000;25:419–22. [PubMed: 10932186]
3. Al-Ata J, Paquet M, Teebi AS. Congenital heart disease in Robinow syndrome. Am J Med Genet. 1998;77:332–3. [PubMed: 9600746]
4. Bain MD, Winter RM, Burn J. Robinow syndrome without mesomelic 'brachymelia': a report of five cases. J Med Genet. 1986;23:350–4. [PMC free article: PMC1049704] [PubMed: 3746837]
5. Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. Craniofacial and intraoral phenotype of Robinow syndrome forms. Clin Genet. 2011;80:15–24. [PubMed: 21496006]
6. Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A. 2008;146A:2804–9. [PubMed: 18831060]
7. Castells S, Chakurkar A, Qazi Q, Bastian W. Robinow syndrome with growth hormone deficiency: treatment with growth hormone. J Pediatr Endocrinol Metab. 1999;12:565–71. [PubMed: 10417975]
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9. Guven MA, Batukan C, Ceylaner S, Uzel M, Ozbek A, Demirpolat G. Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome. Fetal Diagn Ther. 2006;21:386–9. [PubMed: 16757917]
10. Kawai M, Yorifuji T, Yamanaka C, Sasaki H, Momoi T, Furusho K. A case of Robinow syndrome accompanied by partial growth hormone insufficiency treated with growth hormone. Horm Res. 1997;48:41–3. [PubMed: 9195209]
11. Lirk P, Rieder J, Schuerholz A, Keller C. Anaesthetic implications of Robinow syndrome. Paediatr Anaesth. 2003;13:725–7. [PubMed: 14535914]
12. Macdonald I, Dearlove OR. Anaesthesia and Robinow syndrome. Anaesthesia. 1995;50:1097. [PubMed: 8546306]
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15. Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am J Med Genet A. 2007;143:320–5. [PubMed: 17256787]
16. Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet. 2000;24:275–8. [PubMed: 10700182]
17. Patton MA, Afzal AR. Robinow syndrome. J Med Genet. 2002;39:305–10. [PMC free article: PMC1735132] [PubMed: 12011143]
18. Percin EF, Guvenal T, Cetin A, Percin S, Goze F, Arici S. First-trimester diagnosis of Robinow syndrome. Fetal Diagn Ther. 2001;16:308–11. [PubMed: 11509854]
19. Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn. 2010;239:327–37. [PubMed: 19918918]
20. Robinow M, Silverman FN, Smith HD. A newly recognized dwarfing syndrome. Am J Dis Child. 1969;117:645–51. [PubMed: 5771504]
21. Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Komec R, Mundlos S. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet. 2000;67:822–31. [PMC free article: PMC1287887] [PubMed: 10986040]
22. Schwarzer W, Witte F, Rajab A, Mundlos S, Stricker S. A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. Hum Mol Genet. 2009;18:4013–21. [PubMed: 19640924]
23. Sleesman JB, Tobias JD. Anaesthetic implications of the child with Robinow syndrome. Paediatr Anaesth. 2003;13:629–32. [PubMed: 12950866]
24. Soliman AT, Rajab A, Alsalmi I, Bedair SM. Recessive Robinow syndrome: with emphasis on endocrine functions. Metabolism. 1998;47:1337–43. [PubMed: 9826209]
25. Tufan F, Cefle K, Türkmen S, Türkmen A, Zorba U, Dursun M, Oztürk S, Palandüz S, Ecder T, Mundlos S, Horn D. Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. Am J Med Genet A. 2005;136:185–9. [PubMed: 15952209]
26. van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet. 2000;25:423–6. [PubMed: 10932187]
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Suggested Reading

1. Afzal AR, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday VA, Houlston R, Patton MA, Jeffery S. Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. Hum Genet. 2000;106:351–4. [PubMed: 10798366]
2. Oldridge M, Wilkie AOM. ROR2 and brachydactyly type B and recessive Robinow syndrome. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, eds. Inborn Errors of Development - The Molecular Basis of Clinical Disorders of Morphogenesis. Oxford, UK: Oxford University Press; 2004:886-94.

Author History

Ali R Afzal, MD, MSc, PhD; St George’s Hospital Medical School (2004-2011)
Carlos Bacino, MD (2011-present)
Rohan Taylor, SRCS, MRCPath; St George’s Healthcare NHS Trust (2004-2011)

Revision History

• 25 August 2011 (me) Comprehensive update posted live

• 28 July 2005 (me) Review posted to live Web site

• 8 November 2004 (aa) Original submission