In addition to hypotonia, 9 individuals presented with clinical neuropathy by age 10, 6 of whom were younger than age 5. [findzebra.com]

Computational modelling shows that subtle overlapping facial dysmorphism is present. [jmg.bmj.com]

SYNE2 is within the triplicated segment; therefore, it is present in four copies. Since it maps to the equal dosage allele triplicated segment, reference and variant alleles are present two times each. [genomemedicine.biomedcentral.com]

Arrhythmias and conduction disorders are present in 12% of subjects and include right conduction delay and ventricular pre-excitation [9,34]. [mdpi.com]

Funding The present study was supported by the Fujian Provincial Natural Science Foundation, 2017J01238. [frontiersin.org]

• Pain

  Other signs and symptoms of YUHAL syndrome begin in childhood and result from damage to peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat. [encyclopedia.pub]

  […] produce reduced deep tendon reflexes, a peculiar profile of lower limbs (i.e., the inverted champagne bottle appearance), abnormal gait (flapping feet, toe walking), pes cavus or pes planus [9,15]; moreover, the decreased sensitivity to temperature and pain [mdpi.com]

  […] those of Potocki-Lupski syndrome.Other signs and symptoms of YUHAL syndrome begin in childhood and result from damage to peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain [malacards.org]

• Epilepsy

  In future, studies focusing on epilepsy will be important to optimise treatment of seizures related to PURA syndrome. In general, individuals with epilepsy were more severely affected than individuals without epilepsy. [jmg.bmj.com]

  RAI1 Specificity 100 % Genes 100 % Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). [mendelian.co]

  Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. J. Child Neurol. 2006, 21, 93–98. [mdpi.com]

• Failure to Thrive in Infancy

  Most patients had feeding difficulties, hypotonia, and failure to thrive in infancy, and all had global developmental delay with delayed walking, speech delay, and behavioral difficulties. [findzebra.com]

• Dysostosis

  OMIM ORPHANET Rare Disease Symptoms Checker If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA [mendelian.co]

• Constipation

  Additional common but variable features included chronic constipation, foot deformities, joint laxity, and congenital heart defects often involving the left ventricular outflow system. [findzebra.com]

  Chronic constipation MedGen UID: 98325 •Concept ID: C0401149 • Sign or Symptom Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete [ncbi.nlm.nih.gov]

  Constipation was often present (62%) and may be severe, requiring the use of laxatives from early age. [jmg.bmj.com]

  As for many other genetic conditions, scoliosis and constipation are common [8,9,21,25,28,43]. Immunologic. The production of antibodies is impaired in 60% of individuals, predisposing to recurrent airways infections [44]. [mdpi.com]

• Muscle Weakness

  As a result, individuals with a duplication of the PMP22 gene develop muscle weakness and impaired sensitivity to touch, heat, and cold. [encyclopedia.pub]

  Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Joint laxity MedGen UID: 39439 •Concept ID: C0086437 • Finding Lack of stability of a joint. [ncbi.nlm.nih.gov]

  Infants with YUHAL syndrome usually have weak muscle tone (hypotonia), which may lead to feeding problems. They typically do not grow and gain weight at the expected rate. [malacards.org]

• Foot Deformity

  Additional common but variable features included chronic constipation, foot deformities, joint laxity, and congenital heart defects often involving the left ventricular outflow system. [findzebra.com]

• Muscular Atrophy

  Although not a consistent feature, the presence of myoclonic jerks in a neonate with other features of PURA syndrome may be a useful feature to distinguish from Prader-Willi syndrome or peripheral neuromuscular disorders such as spinal muscular atrophy [jmg.bmj.com]

• Alopecia

  OMIM ORPHANET Rare Disease Symptoms Checker If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA [mendelian.co]

• Behavior Problem

  Despite his challenges, he’s a high achiever without any behavioral problems. “He’s the only full-inclusion special needs child in his kindergarten class, which means he participates in all subjects with the help of a one-on-one aide,” Gerlach says. [healthier.stanfordchildrens.org]

  Considering that nearly all SMS individuals have behavioral problems and sleep disturbance, treatments focus on behavioral and educational interventions that target these cardinal traits. [mdpi.com]

• Walking Delay

  Delayed ability to walk MedGen UID: 66034 •Concept ID: C0241726 • Finding A failure to achieve the ability to walk at an appropriate developmental stage. [ncbi.nlm.nih.gov]

Tasimelteon is an oral melatonin receptor agonist that was developed for the treatment of circadian sleep–wake rhythm disorders. In 2020, this drug was approved in the US for the treatment of nighttime sleep disturbances in SMS [132]. [mdpi.com]

The epilepsy is often refractory to medical treatment and some individuals have never been seizure free. [jmg.bmj.com]

Behavioral Disturbance and Treatment Strategies in Smith-Magenis Syndrome. Orphanet J. [frontiersin.org]

疑似睡眠呼吸暂停的睡眠调查 对牙齿排列拥挤和牙齿畸形的诊断评估 心血管 心电图和超声心动图，主动脉根测量 胃肠病学/营养 若生长状态欠佳则可能存在 泌尿生殖 肾超声评价结构异常 骨骼肌肉 活动过度、脊柱侧凸、杵状脚和扁平足的临床评价 临床怀疑脊柱侧弯的影像学检查(脊柱X光) 内分泌 低血糖史和/或生长激素缺乏症的评估 发育/心理 发育迟缓、非典型行为、注意力不集中、多动症和ASD的临床筛查 通过孤独症诊断观察明细™ (ADOS™)来协助诊断ASD 医学遗传学 咨询临床遗传学家和/或遗传咨询师 Treatment [genereviews.nrdrs.org.cn]

PMID: 26544804Free PMC Article Prognosis Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR Am J Hum Genet 2015 Nov 5;97(5):691-707. doi [ncbi.nlm.nih.gov]

[…] thrive GTR MeSH CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar CROGVPMP22-RAI1 contiguous gene duplication syndrome Autosomal dominant hereditary demyelinating motor and sensory neuropathy PMP22-RAI1 contiguous gene duplication syndrome Etiology [ncbi.nlm.nih.gov]

TRP can potentially contribute to disease etiology via gene dosage effects [2, 3], gene disruption at breakpoint junctions [4], position effects [5, 6], or fusion gene formation [7]. [genomemedicine.biomedcentral.com]

Moreover, the increase of H3K9me2/3 correlates with altered expression of protocadherins, principal regulators of cell-cell adhesion and neuronal connectivity associated with ASD etiology [119]. [mdpi.com]