Two distinct forms of Robinow syndrome are recognized in literature - autosomal recessive (caused by heterozygous mutations in the receptor tyrosine kinase-like orphan receptor 2, or ROR2, on chromosome 9) and autosomal dominant (caused by mutations in ROR2 and WTN5A gene on chromosome 3) . Symptoms may begin soon after birth, and the condition affects both genders equally . The clinical presentations somewhat vary, but several features are shared by both forms. Firstly, skeletal changes, such as disproportionately short limbs (mesomelic or acromesomelic), most frequently involving the forearms, brachydactyly, syndactyly, scoliosis, and vertebral segmentation is seen in both autosomal dominant and autosomal recessive subtypes  . Additionally, hypoplasia of the midface, macrocephaly, a large and triangular mouth (V-shaped upper lip), hypertrophy of the gums, delayed loss of decidual teeth, a short and upturned nose, hypertelorism, and a prominent forehead are some of the most common facial abnormalities noted, while the presence of a micropenis or cryptorchidism and vaginal atresia or underdeveloped labia minora are notable genital changes in males and females, respectively    . However, the autosomal recessive variant of Robinow syndrome generally carries a more severe presentation, with a fusion of the ribs and pronounced vertebral and other skeletal defects being important distinguishing characteristics, while supernumerary teeth and an umbilical hernia are seen only in autosomal dominant forms . Involvement of other organs and tissues has been recognized as well, examples being renal disease (hydronephrosis), congenital heart disease (bicuspid aortic valve, stenosis of the pulmonary valve, atrial septal defect, ventricular septal defect, and tetralogy of Fallot), nail hypoplasia and mental delays  .
Entire Body System
- Dysmorphic Face
Abstract Introduction: Robinow syndrome (RS) is an infrequent genetic condition that is characterized by a dysmorphic face, dental anomaly, short stature, mesomelic limb shortening, hand and foot anomalies, and hypoplastic genitalia. [thritajournal.com]
- Short Stature in Children
Most children with Robinow syndrome experience growth delays after birth, resulting in slight to moderate short stature. [rarediseases.org]
- Accelerated Growth
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. [ncbi.nlm.nih.gov]
Jaw & Teeth
- Small Scrotum
In males, the penis is small; scrotum and testes are normal. Cryptorchidism has been reported. In females, clitoral size is reduced; labia majora may be hypoplastic. [ncbi.nlm.nih.gov]
- Urinary Incontinence
incontinence ... lower extremity hypotonia ... scoliosis and vertebral fusion ... hypoplastic labia majora and clitoris ... cryptorchidism and micropenis ... gene responsible for Robinows is the ROR2 gene on Chromosome 9q22 ... [ibis-birthdefects.org]
[…] dysplasia ... macrocephaly with a flat facial profile, hypertelorism and low set ears along with misshapen teeth and gums ... may manifest in the hands and feet as clinodactyly or brachydactyly ... spinal malformations, notably a tethered cord ... urinary incontinence [ibis-birthdefects.org]
Despite the fact that only about 100 cases have been reported until the end of the 20th century, the diagnosis of Robinow syndrome must be suspected in the presence of skeletal, facial and genital signs and symptoms  . For this reason, a thorough physical examination of the newborn or infant is a necessary step in order to make an initial diagnosis. A detailed family history is equally important during workup, as similar symptoms may be encountered among relatives or close family members. Plain radiography, echocardiography, and abdominal ultrasonography can all be highly useful in the assessment of skeletal, dental, cardiac and renal defects, respectively. Detection of genetic mutations, however, is mandatory in order to confirm Robinow syndrome as the underlying cause. Severe symptoms that suggest autosomal recessive variant should prompt an investigation for ROR2 mutations, whereas autosomal dominant forms require additional testing for WNT5A gene abnormalities  . Testing may be performed once clinical criteria are fulfilled, but a prenatal diagnosis through genetic testing during pregnancy may be obtained in the setting of a positive family history as well  .
Treatment usually includes surgery to repair bone abnormalities and growth hormone treatment to help with growth hormone deficiency and short stature. Visiting with a genetic counselor can be useful to better understand the diagnosis. [diseaseinfosearch.org]
Treatment or Management of the Condition Treatment options are available for Robinow syndrome. The most common treatment option is surgical correction. Other treatment options are growth hormone therapy, dental therapy, and counseling. [wiki.ggc.edu]
The potential difficulty of detecting symptoms related to cerebral ischemia in the Robinow's population - where cognitive impairment may obscure initial neurologic symptoms - can result in delayed diagnosis and treatment. [ncbi.nlm.nih.gov]
The treatment varies from one patient to another depending on the present symptoms. Surgical correction of the physical deformities is the most common treatment option. [hxbenefit.com]
Specialized treatment often requires many families to travel in order to recieve care by specialist that have experience with this rare condition. [gofundme.com]
The prenatal and postnatal findings, the differential diagnosis, and the prognosis of patients with this syndrome are discussed. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound, 42:297-300, 2014. [ncbi.nlm.nih.gov]
Prognosis Prognosis of Robinow syndrome is generally good but the severity of heart disorders may affect life expectancy. The documents contained in this web site are presented for information purposes only. [orpha.net]
What is the Prognosis of Robinow Syndrome? (Outcomes/Resolutions) The prognosis of Robinow Syndrome is reported to be generally good with appropriate treatment measures The prognosis also depends on the severity of the signs and symptoms. [dovemed.com]
An early clinical recognition is important to parents, who can receive relevant information concerning the prognosis of this syndrome at an early stage of pregnancy including the possibility of terminating the pregnancy. [onlinelibrary.wiley.com]
The etiology of dominant Robinow syndrome is unknown; however, the phenotypically more severe autosomal recessive form of Robinow syndrome has been associated with mutations in the orphan tyrosine kinase receptor, ROR2, which has recently been identified [ncbi.nlm.nih.gov]
Etiology Mutations in WNT5A gene (3p14.3) have been reported in some patients (< 10%) with autosomal dominant Robinow syndrome. Genetic counseling Transmission is autosomal dominant. [orpha.net]
Summary Epidemiology About 100 cases of this type have been reported in the literature to date. Clinical description The clinical signs are generally milder in dominant cases of RS than in the AR form. [orpha.net]
In this case report, we presented the first report of Robinow syndrome in Iranian population, in order to improve the science and epidemiology related to this disease. [thritajournal.com]
Pathophysiology The most prominent and consistent features of van der Woude syndrome are orofacial anomalies caused by an abnormal fusion of the palate and lips at 30-50 days postconception. [emedicine.medscape.com]
Prevention Prevention of the disease is to determine the likelihood of having a child with this anomaly. To do this, conducted a survey of both parents, as well as installed instances of the disease in relatives. [health-and-beaty.blogspot.com]
Robinow Syndrome Prevention It is not possible to prevent the genetic disorder in advance as the factors that trigger the gene mutations are not known. [hxbenefit.com]
Robinow syndrome and fusion of primary teeth Department of Pediatric and Preventive Dentistry, Nair Hospital Dental College, Mumbai, Maharashtra, India Date of Web Publication 14-Sep-2017 Correspondence Address : Priti Sushil Jain Department of Pediatric [contempclindent.org]
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