Symptoma

Bainbridge-Ropers Syndrome

Severe Feeding Difficulties - Failure to Thrive - Microcephaly due to ASXL3 Deficiency

Three variants presented recurrence in BRS. The c.3106C T(p.Arg1036*)4,14,15, present in both BRS and in an individual with autism spectrum disorder16. [rarediseasesjournal.com]

Apart from disruptive autistiform behaviors, sleep disturbances and epileptic phenomena may be present. [dovepress.com]

Acronym BRPS Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

(eg, micro- or macrocephaly, present in 33%; manuscript in preparation). [nature.com]

With the advent of advanced genomic screening, we are likely to identify more variants in this gene presenting with a variable phenotype, which this study will explore. [discovery.dundee.ac.uk]

  • Short Stature

    Patient and methods: A 7-year-old boy had severe short stature ( 3.5 SDS, MPH: 1.1 SDS), dysmorphic features, severe learning difficulties, and speech delay. [endocrine-abstracts.org]

    We describe a patient with severe developmental delay, feeding problems, short stature, autism, and sleep disturbance with a heterozygous de novo splicing mutation in the ASXL3 gene. [keio.pure.elsevier.com]

    At 7 years of age, he was referred to endocrinology for assessment of his severe short stature ( 4.11 SDS for height, mid parental height: 1.1 SDS, weight: -2.30 SDS). [ijpeonline.biomedcentral.com]

    He developed a postnatal short stature, severe ID, hypertrichosis, hypotonia of the trunk and alternating periods of apnea and hyperventilation. He did not speak and was unable to walk. [nature.com]

  • Pain

    We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: April 24, 2020 [patientslikeme.com]

    […] mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency. 61 Giri D...Senniappan S 28785287 2017 31 The impact of choosing words carefully: an online investigation into imaging reporting strategies and best practice care for low back pain [malacards.org]

  • Tall Stature

    Showing of 30 Medical Terms Other Names Learn More: HPO ID 1%-4% of people have these symptoms Arachnodactyly Long slender fingers Spider fingers [ more ] 0001166 Disproportionate tall stature 0001519 Pes planus Flat feet Flat foot [ more ] 0001763 Scoliosis [rarediseases.info.nih.gov]

  • Hypertension

    Epigenetic regulation of insulin-like growth factor signaling: a novel insight into the pathophysiology of neonatal pulmonary hypertension. Vasc Pharmacol. 2015;73:4–7. 17. [ijpeonline.biomedcentral.com]

  • Hepatomegaly

    Upslanting palpebral fissures 8% 0 57% Systemic features Ulnar deviation 17% 0 0 Hypertrichosis 16% 16% (1) 86% BOS posture 0 0 100% Others Neonatal macrosomy in one patient Structural cardiopathy, hypoglicemia Atresia choanal, atrial septal defect, hepatomegaly [rarediseasesjournal.com]

  • Low Set Ears

    He had downward slanting of eyes, low set ears, short neck, hypoplastic toe nails, shortening of metacarpals and ring finger, previous surgically repaired sagittal craniosynostosis and bilateral undescended testes. [endocrine-abstracts.org]

  • Low-Set Posteriorly Rotated Ears

    Microcephaly 36% 0 100% Macrocephaly 0 100% 0 Downslanting palpebral fissures 50% 0 0 Broad/prominent forehead 42% 16% (1 ) 0 Glabellar nevus flammeus 0 100% 86% Arched eyebrows 31% 100% 0 Low-set/ posteriorly rotated ears 22% 100% 43% Anteverted nares [rarediseasesjournal.com]

  • Macrocephaly

    But, macrocephaly instead of microcephaly seems to be SHAPNS most distinctive clinical sign12. [rarediseasesjournal.com]

    […] features were, for example, craniofacial dysmorphism (present in 70% of individuals), epilepsy (present in 26%), organ malformations (eg, congenital heart defects found in 7% or brain malformations found in 14%) or aberrant body measurements (eg, micro- or macrocephaly [nature.com]

  • Back Pain

    pain. 61 Karran EL...Moseley GL 29230375 2017 32 Ex Vivo Smooth Muscle Pharmacological Effects of a Novel Bradykinin-Related Peptide, and Its Analogue, from Chinese Large Odorous Frog, Odorrana livida Skin Secretions. 61 Xiang J...Shaw C 27690099 2016 [malacards.org]

  • Low Back Pain

    back pain. 61 Karran EL...Moseley GL 29230375 2017 32 Ex Vivo Smooth Muscle Pharmacological Effects of a Novel Bradykinin-Related Peptide, and Its Analogue, from Chinese Large Odorous Frog, Odorrana livida Skin Secretions. 61 Xiang J...Shaw C 27690099 [malacards.org]

  • Short Neck

    He had downward slanting of eyes, low set ears, short neck, hypoplastic toe nails, shortening of metacarpals and ring finger, previous surgically repaired sagittal craniosynostosis and bilateral undescended testes. [endocrine-abstracts.org]

  • Thin Lips

    He has dysmorphic features including prominent long nasal bridge and forehead, small lower jaw, thin lips, low set cupped ears, strabismus and down-slanting palpebral fissures (Fig. 1). [ijpeonline.biomedcentral.com]

  • Cryptorchidism

    He had cryptorchidism. A heterozygous de novo frameshift variant in exon 11 of ASXL3 [chr18:g.31,318,587delA, c.1219delA., p.(Ser407AlafsTer2)] was identified by WES trio analysis. [nature.com]

  • Learning Difficulties

    Patient and methods: A 7-year-old boy had severe short stature ( 3.5 SDS, MPH: 1.1 SDS), dysmorphic features, severe learning difficulties, and speech delay. [endocrine-abstracts.org]

    He has global developmental delay and complex learning difficulties requiring additional support at school. He also has been diagnosed with autism. [ijpeonline.biomedcentral.com]

  • Behavior Problem

    Two years later, he had to be institutionalized because of severe behavioral problems, particularly continuous extreme screaming, also nocturnal. [dovepress.com]

  • Bartonella Bacilliformis

    bacilliformis: Candidates for Vaccine Development. 61 Henriquez-Camacho C...Maguina C 26413097 2015 44 A novel bradykinin-related dodecapeptide (RVALPPGFTPLR) from the skin secretion of the Fujian large-headed frog (Limnonectes fujianensis) exhibiting [malacards.org]

  • Vibrio Vulnificus

    vulnificus. 61 Hwang SH...Choi SH 32010109 2019 10 Reactive oxygen species mediates a metabolic memory of high glucose stress signaling in bovine retinal pericytes. 61 Zhang LW...Chen BH 31341794 2019 11 Corrigendum to "Childhood-onset generalized epilepsy [malacards.org]

Differential diagnosis[edit] Bohring-Opitz syndrome Treatment[edit] There is no currently known treatment or cure for this condition. However, the symptoms can be treated. [en.wikipedia.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Ranakinestatin-PPF from the skin secretion of the Fukien gold-striped pond frog, Pelophylax plancyi fukienensis: a prototype of a novel class of bradykinin B2 receptor antagonist peptide from ranid frogs. 61 Ma J...Shaw C 25161395 2014 48 Combination treatment [malacards.org]

[…] palpebral fissure Upward slanting of the opening between the eyelids 0000582 Wide mouth Broad mouth Large mouth [ more ] 0000154 Showing of 30 Last updated: 3/1/2020 Research helps us better understand diseases and can lead to advances in diagnosis and treatment [rarediseases.info.nih.gov]

The latter not only to detect the genetic etiology of syndromic intellectual disability, but especially also to further elucidate course into adulthood and prognosis of newly discovered disorders like Bainbridge-Ropers syndrome. [dovepress.com]

Since etiological investigation was not performed as yet, first, chromosomal analysis using the CytoScan HD array (Applied Biosystems , Foster City, CA, USA) was done, which disclosed no abnormalities. [dovepress.com]

Epigenetic regulation of insulin-like growth factor signaling: a novel insight into the pathophysiology of neonatal pulmonary hypertension. Vasc Pharmacol. 2015;73:4–7. 17. [ijpeonline.biomedcentral.com]

Pelophylax plancyi fukienensis: a prototype of a novel class of bradykinin B2 receptor antagonist peptide from ranid frogs. 61 Ma J...Shaw C 25161395 2014 48 Combination treatment with risperidone long-acting injection and psychoeducational approaches for preventing [malacards.org]

Because of persistent epileptic phenomena, occurring also at night, 10 years later valproic acid was added (1,200 mg), which, however, could not prevent further tonic-clonic seizures. [dovepress.com]

According to this hypothesis, mutation of R989 to glycine would prevent the interaction of ASXL3 with an as-yet unidentified 14–3-3 protein, thereby damaging function through impairing its ability to scaffold epigenetic protein complexes [6]. [ijpeonline.biomedcentral.com]