The digits of the feet were distorted but all digits were present. The fingernails “resembled those of an animal”. All ribs were present. [jmg.bmj.com]

Lid colobomas and down-slanting palpebral fissures may be present. [disorders.eyes.arizona.edu]

Patches of pink or dark red on the skin due to collections of small blood vessels may also present with the syndrome. In some individuals genital abnormalities are present with the syndrome. Skip the waiting lines. [fdna.health]

[…] toes) Joint contractures, especially in elbows and knees Individuals may also present with facial abnormalities, including cleft palate, micrognathia (small chin), wide-set eyes (hypertelorism), and ear malformations. [paleyinstitute.org]

Case presentation A fetus in a healthy, nonconsanguineous Chinese family with multiple serious congenital malformations was diagnosed prenatally. [bmcmedgenomics.biomedcentral.com]

• Short Stature

  The mother was aged 28 years, of short stature and slender, with a “choleric-melancholic” temperament. [jmg.bmj.com]

  Low birth weight and slow postnatal growth rates are usually result in short stature. The hair is often sparse and light-colored. Mental development is impaired and some children are diagnosed to have mental retardation. Cardiac defects are common. [disorders.eyes.arizona.edu]

  Short stature. Abnormal skin pigmentation. [thefetus.net]

• Recurrent Infection

  This also shows the usefulness of the immunological assessment in patients with genetic defects and recurrent infections. REFERENCES Temtamy SA, Ismail S, Helmy NA. [medigraphic.com]

• Failure to Thrive

  10.53347/rID-3966 Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome. general intrauterine growth restriction postnatal growth retardation failure [radiopaedia.org]

• Sparse Hair

  Hair. Sparse hair, silvery blonde scalp hair [1,23]. Cranial nerve paralysis. Lack of the swallowing reflex [1,4]. Moyamoya disease [1]. Simian crease [17]. Stroke [1]. Gastrointestinal abnormalities. [thefetus.net]

• Sparse Hair

  Hair. Sparse hair, silvery blonde scalp hair [1,23]. Cranial nerve paralysis. Lack of the swallowing reflex [1,4]. Moyamoya disease [1]. Simian crease [17]. Stroke [1]. Gastrointestinal abnormalities. [thefetus.net]

• Corneal Opacity

  Findings from an ocular examination revealed bilateral microcornea with corneal clouding and superficial corneal opacity with vascularization (Figure 3 and Figure 4). Intraocular pressure was normal when measured under general anaesthesia. [jamanetwork.com]

  Other characteristic signs may include microcephaly; corneal opacities; and encephalocele. In addition, people with Roberts syndrome may have abnormalities of the heart, kidneys and genitals. [ivami.com]

  They may have a small head size (microcephaly) or clouding of the clear front covering of the eyes (corneal opacities). In severe cases affected individuals have a sac-like protrusion of the brain (encephalocele) at the front of their head. [encyclopedia.pub]

• Blue Sclera

  Microcephaly and mental retardation can be associated with other craniofacial anomalies (craniosynostosis hydrocephalus, encephalocele, blue sclerae, exophthalmia, and cleft palate and lip). [accessanesthesiology.mhmedical.com]

  In some children, the whites of the eyes may be blue (blue sclera) and increased pressure within the eyeball (glaucoma) may also be present. [rarediseases.org]

• Small Eyes

  Widely spaced eyes, very small eyes, cloudy corneas and prominent eyes are also common with the syndrome. In some affected individuals, the whites of the eyes are blue. [fdna.health]

  Affected infants may have eye (ocular) abnormalities including widely spaced eyes (hypertelorism); unusually small eyes (microphthalmia); cloudy corneas; and bulging or prominent eyes (proptosis) due to shallow eye cavities (orbits). [rarediseases.org]

• Short Neck

  Systemic Features: Failure of both membranous and long bones to grow properly lead to a variety of abnormalities such as craniosynostosis, hypomelia, syndactyly, oligodactyly, malar hypoplasia, short neck, micrognathia, and cleft lip and palate. [disorders.eyes.arizona.edu]

Standard treatment is needed for individuals with cardiac defects and renal abnormalities. [secure.ssa.gov]

Treatment Treatment Options: Severely affected infants may be stillborn or die in infancy. Other individuals live to adulthood. There is no treatment for this condition beyond specific correction of individual anomalies. [disorders.eyes.arizona.edu]

Postnatal treatment is tailored to the affected individual’s specific needs, including surgical reconstructive procedures, speech therapy, and targeted treatment for specific cardiac defects. [radiologykey.com]

treatment effect across trials was considered clinically meaningful. [cochranelibrary.com]

Other treatment is symptomatic and supportive. [rarediseases.org]

There is a wide clinical variability among affected individuals, and prognosis generally depends on the malformations present. Mortality rates are high among severely affected fetuses and newborns. [radiologykey.com]

Prognosis is adverse. High mortality rate during the neonatal period and childhood are mainly due to cardiac or renal malformations. Intellectual disability occurs in most of the affected subjects; in some cases, intelligence can be normal. [elsevier.es]

Prognosis The prognosis and survival depends on the severity of malformations [1]. So, mortality is high among the most severely affected infants, but mildly affected children are more likely to survive to adulthood. [thefetus.net]

An understanding of basic SMC complex function will be essential to unraveling the molecular etiology of human diseases associated with defective SMC function. [tandfonline.com]

Etiology and Pathophysiology Roberts syndrome is caused by mutations in the es tablishment of the co hesion 1 homologue 2 (ESCO2) gene located on chromosome 8. [radiologykey.com]

May be there is some other factor playing a role in its etiology. [jpma.org.pk]

[…] classified this variant as a definitive pathogenic variant based on the following criteria: PVS1-VS (pathogenic criterion is weighted as very strong), PP4 (patient’s phenotype or family history is highly specific for a disease with a single genetic etiology [bmcmedgenomics.biomedcentral.com]

Prevalence and Epidemiology Roberts syndrome is a rare disorder with no accurate estimates of prevalence. Fewer than 200 individuals of diverse racial and ethnic backgrounds have been reported in the literature. [radiologykey.com]

[…] syndrome: nosologic aspects. 61 57 Herrmann J...Opitz JM 872834 1977 44 Prenatal diagnosis of renal anomalies. 61 57 Kaffe S...Hirschhorn K 610432 1977 45 The Roberts syndrome. 57 61 Freeman MV...German J 4151884 1974 46 Phocomelia: a worldwide descriptive epidemiologic [malacards.org]

Etiology and Pathophysiology Roberts syndrome is caused by mutations in the es tablishment of the co hesion 1 homologue 2 (ESCO2) gene located on chromosome 8. [radiologykey.com]

Pathophysiology Mutations in cohesion 1 homologue 2 (ESCO2) gene on chromosome 8p21.1. [accessanesthesiology.mhmedical.com]

The coagulation of superficial vessels therefore should not have any effect on the pathophysiology of TTTS but might indeed be cutting off some normal placental vessels with inherent fetal risks (De Lia 1995). [cochranelibrary.com]

Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the disease in the first place. Wondering if this test is right for you? Take a two minute quiz to find out. [eugenelabs.com]

All identified mutations in the ESCO2 gene prevent the cell from producing any functional ESCO2 protein, which causes some of the glue between sister chromatids to be missing around the chromosome's constriction point (centromere). [encyclopedia.pub]

Feticide, using a technique which does not affect the circulation of the surviving twin, may prevent neurological injury to the survivor. [cochranelibrary.com]