Robinow syndrome

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Robinow syndrome
An infant exhibiting the facial features of Robinow syndrome.
SpecialtyMedical genetics Edit this on Wikidata
Causesdisorder to the ROR2 gene on position 9 of the long arm of chromosome 9

Robinow syndrome is an extremely rare

vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow,[1] along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children. By 2002, over 100 cases had been documented and introduced into medical literature.[1]

Two forms of the disorder exist,

common ancestor, as these patients' families can be traced to a single town in Eastern Turkey.[4] Clusters of the autosomal recessive form have also been documented in Oman and Czechoslovakia.[1]

The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism, fetal face, fetal face syndrome,[5] fetal facies syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia syndrome.[6] The recessive form was previously known as Covesdem syndrome.

Signs and symptoms

Note characteristic fetal face, hypogenitalism and brachydactyly of hands and feet.
vertebral fusion
.

Robinow noted the resemblance of affected patients' faces to that of a

hypertrophy
.

Though the eyes do not protrude, abnormalities in the lower

pinna.[1]

Patients suffer from dwarfism,

Jarcho-Levin syndrome or spondylocostal dysostosis.[1]

Genital defects characteristically seen in males include a

haematocolpos.[3]

The autosomal recessive form of the disorder tends to be much more severe. Examples of differences are summarized in the following table:[7]

Characteristic Autosomal recessive Autosomal dominant
Stature Shorter stature – 2 SD or less Short or normal
Arms Very short Slightly short
Elbow Radial head dislocation No radial head dislocation
Upper lip Tented upper lip Normal upper lip
Mortality rate 10% mortality No excess mortality

Associated conditions

Medical conditions include frequent

esophageal reflux.[2]

Data on

secondary sex characteristics is relatively sparse. It has been reported that both male and female patients have had children. Males who have reproduced have all had the autosomal dominant form of the disorder; the fertility of those with the recessive variant is unknown.[1]

Researchers have also reported abnormalities in the

renal tract of affected patients. Hydronephrosis is a relatively common condition, and researchers have theorized that this may lead to urinary tract infections.[8] In addition, a number of patients have suffered from cystic dysplasia of the kidney.[1]

A number of other conditions are often associated with Robinow syndrome. About 15% of reported patients suffer from

pulmonary stenosis and atresia.[9] In addition, though intelligence is generally normal, around 15% of patients show developmental delays.[1]

Genetics

chromosome 9.[1] The gene is responsible for aspects of bone and cartilage growth. This same gene is involved in causing autosomal dominant brachydactyly B.[1]

The autosomal dominant form has been linked to three genes –

FZD2) and Nucleoredoxin (NXN gene).[10] All of these genes belong to the same metabolic pathway – the WNT system. This system is involved in secretion for various compounds both in the fetus and in the adult.[citation needed
]

A fetal

prenatal diagnosis 19 weeks into pregnancy. However, the characteristics of a fetus suffering from the milder dominant form may not always be easy to differentiate from a more serious recessive case. Genetic counseling is an option given the availability of a family history.[1]

Diagnosis

Robinow syndrome is suspected by clinical findings and family history and confirmed by typical ROR-2 biallelic pathogenic variants identified by molecular genetic testing.[11]

Treatment

Treatment of the various manifestations will usually be addressed by a multidisciplinary team.[12]

History

The disorder was first described in 1969 by the German–American Human Geneticist Meinhard Robinow (1909–1997),[1] along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children. By 2002, over 100 cases had been documented and introduced into medical literature.[1]

References

  1. ^
    PMID 12011143
    .
  2. ^ a b c d e Robinow Syndrome Foundation. General Information. Accessed 19 May 2006.
  3. ^
    PMID 9738864
    .
  4. S2CID 36402844
    .
  5. ^ National Organization for Rare Disorders, Inc. Robinow Syndrome. Last modified 15 May 2006. Accessed 19 May 2006.
  6. ^ Jablonski's Syndromes Database. Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. Accessed 20 May 2006.
  7. S2CID 38507817
    .
  8. PMID 7091086
    .
  9. PMID 2260599
    .
  10. PMID 29276006
    .
  11. S2CID 21096559
    .
  12. PMID 25577943
    .

Further reading

External links
Wikimedia Commons has media related to Robinow syndrome.
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