Paula and Bobby
Parents of Lillie
Bainbridge-Ropers syndrome (BRPS)
What is Bainbridge-Ropers syndrome (BRPS)?
This rare disease is a genetic developmental disorder first identified in 2013.
It is a rare condition and in 2018 there were just 200 diagnosed cases worldwide
The syndrome presents with intellectual disability and developmental delay, affecting almost all areas of development in an affected individual.
What gene changes cause Bainbridge-Ropers syndrome (BRPS)?
Mutations to the ASXL3 gene are responsible for causing the syndrome. The majority of cases are the result of de novo mutations and the research to date does not suggest that the condition is inherited.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Bainbridge-Ropers syndrome (BRPS)?
Symptoms may vary between individuals but the main features of the syndrome include intellectual disability, development delay including gross motor delay and restricted mobility development.
Around half of the children diagnosed with the condition are also diagnosed as autistic or with autistic traits. Many individuals will develop anywhere from very little to no speech.
Seizures, frequent infections and sleep issues are also common symptoms although their exact time, severing and frequency will vary amongst individuals.
Unique facial features of the condition include a squint in the eyes which is usually diagnosed and corrected in infancy, widely-spaced eyes, downward slanting eyes and thin eyebrows. A high arched palate, overbite and small jaw are also common. As are a small nose, high forehead and low set ears.
How does someone get tested for Bainbridge-Ropers syndrome (BRPS)?
The initial testing for Bainbridge-Ropers syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
Medical information on Bainbridge-Ropers syndrome (BRPS)
Kuechler et al., (2016) described six unrelated patients with Bainbridge–Ropers syndrome. The authors identified heterozygous de novo mutations in the ASXL3 gene. The patients presented with feeding difficulties (two of them needed a gastric tube and two failed to thrive), motor developmental delay, intellectual disability, severe speech and speech comprehension impairment, poor eye contact, facial dysmorphic features, hypotonia of the trunk and hypertonia of the extremities and hands abnormalities (clenched fists at infancy, ulnar deviation, long and slender fingers). Facial features included long face, temporal narrowing, prominent forehead, arched eyebrows, downslanting palpebral fissures, strabismus, prominent columella, small alae nasi, anteverted nares, high and narrow palate, downturned corners of the mouth, open mouth appearance and reduced facial expression. Less common features included vomiting in infancy, seizures, hirsutism and skeletal abnormalities (pectus carinatum/excavatum, kyphoscoliosis, limited extension of elbows, flat feet). Brain MRI varied between patients and included hypoplasia of cerebellar vermis or corpus callosum, slightly dilated lateral ventricles and mild white matter volume loss.
Balasubramanian et al., (2017) described 12 unrelated patients with de novo truncating mutations in the ASXL3 gene. Characteristic features were higher incidence of cesarean section due to breech presentation (9/12), relative microcephaly (7/12), significant feeding difficulties, high-arched palate, strabismus (7/12), significant hypotonia (11/12), Marfanoid habitus with arachnodactyly, tall stature, pes planus and scoliosis (3/12), severe intellectual disability with poor or absent speech and autistic traits (9/12). Facial dysmorphism included downslanting palpebral fissures (10/12; two had upslanting palpebral fissures), long tubular nose with a prominent nasal bridge, broad nasal tip with low columella, wide mouth with everted lower lip, narrow head shape with prominent forehead, hypertelorism, ‘pencilled’ and/or high-arched eyebrows and crowded teeth. Seizures were seen only in 3/12 patients. Brain MRI showed only non-specific features.
Hori et al., (2017) described an additional patient (5-year-old female) with severe developmental delay, feeding problems, short stature, autism, sleep disturbance, and a heterozygous de novo splicing mutation in the ASXL3 gene. Dysmorphic features included prominent forehead, thick eyebrows, long lashes, exotropia, depressed nasal bridge, thin upper lip vermillion, hirsutism, microcephaly, bilateral camptodactyly of third, fourth and fifth fingers, deep palmar creases, and small hands and feet.
Bacrot et. al. (2018) described a 30 week-old female fetus with prenatal diagnosis of arthrogryposis due to a novel heterozygous protein-truncating mutation in the ASXL3 gene. Unusual clinical characteristics were pontocerebellar hypoplasia type 1 with neuronal loss in pons, olivary nuclei with mild gliosis, and anterior horn cell degeneration.
* This information is courtesy of the L M D.
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