The clinical presentation of Rubinstein-Taybi syndrome involves several organs, but the most prominent features are exhibited in the facial region and the distal extremities. Prominent and beaked nose, hypoplasia of the maxilla, low-set ears, micrognathia, enamel hypoplasia, talon cusps, highly arched eyebrows and long eyelashes are the most common facial abnormalities in these patients [9] [10]. Broad and angulated thumbs, fingers, and great toes are observed in practically all patients, while clinodactyly is seen in some patients as well.

Growth retardation and postnatal growth failure are present in the majority of patients. Infants often fall below the fifth percentile in terms of weight, height, and head circumference, and failure to thrive is frequently reported [11]. Feeding difficulties and dysphagia occur commonly in patients with recurrent respiratory tract infections, and short stature is often established during the physical examination. Microcephaly is also frequently reported.

Severe mental retardation, cognitive impairment, short attention span, sudden mood changes and speech difficulties are readily observed. Defects in motor skills and coordination, sometimes accompanied with hypotonia and hyperreflexia may be seen.

Findings that are somewhat less prevalent in these patients include:

• Cryptorchidism, hypospadias, hypoplasia or agenesis of the kidneys, frequent urinary tract infections, hydronephrosis, and vesicoureteral reflux.
• Skeletal system - Kyphosis, scoliosis, pectus excavatum, and patellar dislocation.
• Congenital heart disease - Pulmonary stenosis, bicuspid aortic valve, coarctation of the aorta, ASD, VSD, and PDA are observed, and some patients have more than one anomaly [12].
• Respiratory system - Recurrent infections, sleep apnea, and lung lobulation, while increased susceptibility to the collapse of the larynx and breathing difficulties are also reported.
• Ocular disturbances - Hypertelorism, strabismus, nasolacrimal duct obstruction, ptosis, retinal dysfunction, and development of glaucoma [13].
• Hirsutism is frequently observed, as is the development of nevus flammeus, usually on the forehead, while extensive development of scar tissue after injury and keloid formation occurs.

• Broad Thumb

  Rubinstein-Taybi syndrome (RTS), also known as 'broad thumbs syndrome' or 'broad thumb-hallux syndrome', is a malformation syndrome characterized by the triad of broad thumbs or first toes, a peculiar facial expression called 'comical face' and mental [ncbi.nlm.nih.gov]

  Language: MeSH term: Accepted terms: English: Rubinstein-Taybi Syndrome - Broad Thumb-Hallux Syndrome - Rubinstein Syndrome - Broad Thumb Hallux Syndrome - Broad Thumb-Hallux Syndromes - Rubinstein Taybi Syndrome - Syndrome, Broad Thumb-Hallux Français [hon.ch]

• Short Stature

  Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and short stature. [ncbi.nlm.nih.gov]

  stature Syndromes with dysmelia Categoria nascosta: Uses of Wikidata Infobox [commons.wikimedia.org]

• Broad Great Toe

  His facial and clinical features were very typical, including broad thumbs with radial angulation and broad great toes. [ncbi.nlm.nih.gov]

  Overview Practice Essentials Consistent features of Rubinstein-Taybi syndrome (RSTS) include intellectual disability, broad great toes, broad thumbs, and maxillary abnormality. [emedicine.medscape.com]

• Recurrent Infection

  It is estimated that approximately 75% of patients with RTS experience recurrent respiratory infections. In this study, three patients thought to have RTS and recurrent infections were evaluated for an immunologic deficiency. [ncbi.nlm.nih.gov]

  Problems that may occur in early life include breathing difficulties, feeding problems, poor weight gain, recurrent infections, and constipation. Developmental delay occurs in most children with RTS. [cafamily.org.uk]

  Naimi DR, Munoz J, Rubinstein J, et al ; Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. Allergy Asthma Proc. 2006 May-Jun27(3):281-4. [patient.info]

  Respiratory system - Recurrent infections, sleep apnea, and lung lobulation, while increased susceptibility to the collapse of the larynx and breathing difficulties are also reported. [symptoma.com]

  "Rubinstein-Taybi syndrome: an immune deficiency as a cause of recurrent infections". Allergy Asthma Proc. vol. 27. 2006. pp. 281-284. (This article describes 3 patients with increased respiratory infections and a defect in antibody-response.) [clinicaladvisor.com]

• Single Transverse Palmar Crease

  transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior [ more ] 0000733 Syndactyly Webbed fingers or toes 0001159 Talon cusp 0011087 [rarediseases.info.nih.gov]

  transverse palmar crease　(単一手掌屈曲線)　[HP:0000954]　[180513] 　Spina bifida occulta　(潜在的二分脊椎)　[HP:0003298]　[1141] 　Sporadic　(散発性)　[HP:0003745]　[-] 　Stereotypy　(常同性)　[HP:0000733]　[02202] 　Syndactyly　(合指趾)　[HP:0001159]　[15407] 　Talon cusp　(距錐咬頭)　[HP:0011087 [syndromefinder.ncchd.go.jp]

• Failure to Thrive

  […] thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Convex nasal ridge Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Failure [rarediseases.info.nih.gov]

  Affected infants fail to grow and gain weight at the expected rate (failure to thrive). Although weight gain can be very slow in infancy, children with RSTS may later show a relative obesity for their height. [rarediseases.org]

  Growth retardation and postnatal growth failure are present in the majority of patients. Infants often fall below the fifth percentile in terms of weight, height, and head circumference, and failure to thrive is frequently reported. [symptoma.com]

• High Arched Palate

  Ru·bin·stein-Tay·bi syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set ears, high arched palate, and cardiac anomaly; a submicroscopic [medical-dictionary.thefreedictionary.com]

  Facial features are striking including heavy, arched eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, broad nasal bridge, narrow, high-arched palate and characteristic grimacing. read more [ctgt.net]

  Craniofacial abnormalities including: microcephaly, underdeveloped maxilla, micrognathia, high arched palate, malocclusion, down-slanting palpebral fissures, thick eyelashes and full eyebrows. [ncbi.nlm.nih.gov]

  Features include 5: facial appearance high arched eyebrows long eyelashes down-slanting palpebral fissures broad nasal bridge/beaked nose high arched palate mild micrognathia unusual facial expression: the grimacing or at least unusual smile with an almost [radiopaedia.org]

• Anomaly of the Sternum

  Vertebral deformations as well as anomalies of the sternum and ribs are often visible on X-ray. [mun-h-center.se]

• Low Set Ears

  Ru·bin·stein-Tay·bi syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set ears, high arched palate, and cardiac anomaly; a submicroscopic [medical-dictionary.thefreedictionary.com]

  Various facial features, such as the underdeveloped jaw, beaked nose, low-set ears, and long eyelashes, are accompanied with broadening and angulation of thumbs, big toes, and other fingers. [symptoma.com]

  […] muscle tone Other signs and symptoms may include: Absent or extra kidney, and other problems with kidney or bladder An underdeveloped bone in the midface Unsteady or stiff walking gait Downward-slanted eyes Low-set ears or malformed ears Drooping eyelid [nicklauschildrens.org]

• Hearing Impairment

  Many children have vision problems and hearing impairments as a result of infections, attributable to an increased sensitivity to infection. [mun-h-center.se]

  impairment Deafness Hearing defect [ more ] 0000365 Hip dysplasia 0001385 Keloids 0010562 Polyhydramnios High levels of amniotic fluid 0001561 Ptosis Drooping upper eyelid 0000508 Seizures Seizure 0001250 Percent of people who have these symptoms is [rarediseases.info.nih.gov]

  As part of the underlying condition, our patient had marked nasal speech and mild to moderate right conductive hearing impairment. She had developmental delay and attention deficit hyperactivity disorder. [jmedicalcasereports.com]

  impairment　(難聴)　[HP:0000365]　[091] 　Hip dysplasia　(股関節異形成)　[HP:0001385]　[1140] 　Keloids　(ケロイド)　[HP:0010562]　[18022] 　Polyhydramnios　(羊水過多)　[HP:0001561]　[01008] 　Ptosis　(眼瞼下垂)　[HP:0000508]　[06807] 　Seizures　(けいれん)　[HP:0001250]　[01405] 　Abnormal cornea [syndromefinder.ncchd.go.jp]

• Hirsutism

  Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes, and inguinal hernia. [ncbi.nlm.nih.gov]

  […] the fifth fingers skull and central nervous system microcephaly intellectual retardation (IQ 35-50) congenital cardiac abnormalities: reported in up to 33% of affected patients 2 patent ductus arteriosus atrial septal defects ventricular septal defect hirsutism [radiopaedia.org]

  Symptoms Broadening of the thumbs and big toes Constipation Excess hair on body (hirsutism) Heart defects possibly requiring surgery Intellectual disability Seizures Short stature that is noticeable after birth Slow development of cognitive skills Slow [nicklauschildrens.org]

• Cafe-Au-Lait Spots

  […] inheritance 0000006 Avascular necrosis of the capital femoral epiphysis 0005743 Bifid uterus 0000136 Bimanual synkinesia Hand mirror movements Mirror hand movements Mirror movements [ more ] 0001335 Broad hallux Broad big toe Wide big toe [ more ] 0010055 Cafe-au-lait [rarediseases.info.nih.gov]

  […] dominantinheritance　　[HP:0000006]　[-] 　Avascular necrosis of the capital femoral epiphysis　(大腿骨頭骨端の無血管性壊死)　[HP:0005743]　[16115] 　Bifid uterus　(二分子宮)　[HP:0000136]　[1424] 　Bimanual synkinesia　(手の鏡像運動)　[HP:0001335]　[02621] 　Broad hallux　(幅広い母趾)　[HP:0010055]　[15501] 　Cafe-au-lait [syndromefinder.ncchd.go.jp]

• Short Attention Span

  However, they displayed some specific behaviors: short attention span, motor stereotypies, poor coordination, and overweight. [ncbi.nlm.nih.gov]

  The authors concluded that Rubinstein-Taybi patients had specific behaviors including short attention span and poor coordination.) Miller, R, Rubinstein, J. "Tumors in Rubinstein-Taybi syndrome". Am J Med Genet. vol. 56. 1995. pp. 112-115. [clinicaladvisor.com]

  Short attention span, poor coordination, and sudden mood changes characterize the behavior of RTS patients. [ommbid.mhmedical.com]

• Beaked Nose

  Ru·bin·stein-Tay·bi syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set ears, high arched palate, and cardiac anomaly; a submicroscopic [medical-dictionary.thefreedictionary.com]

  A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad nasal bridge, triangular mouth and pointed chin and skeletal finding including broad [ncbi.nlm.nih.gov]

  Facial features are striking including heavy, arched eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, broad nasal bridge, narrow, high-arched palate and characteristic grimacing. read more [ctgt.net]

  These include anti-mongoloid slant of eyes, heavy eye brows, low set ears and beaked nose. Clinically, the hallux was broad bilaterally and a skin cleft was noted along the plantar first interspace. [faoj.org]

• Large Anterior Fontanels

  anterior fontanelle (41%), microcephaly (35%), Small mouth, persistent fetal finger pads (31%), duplicated longitudinal bracketed epiphysis (kissing delta phalanx), syndactyly, polydactyly, ulnar deviation of the thumb, congenital or juvenile glaucoma [faoj.org]

• Short Nose

  The facial characteristics were variable; main characteristics were short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. [ncbi.nlm.nih.gov]

• Poor Coordination

  However, they displayed some specific behaviors: short attention span, motor stereotypies, poor coordination, and overweight. [ncbi.nlm.nih.gov]

  The authors concluded that Rubinstein-Taybi patients had specific behaviors including short attention span and poor coordination.) Miller, R, Rubinstein, J. "Tumors in Rubinstein-Taybi syndrome". Am J Med Genet. vol. 56. 1995. pp. 112-115. [clinicaladvisor.com]

  Short attention span, poor coordination, and sudden mood changes characterize the behavior of RTS patients. [ommbid.mhmedical.com]

  coordination 0002370 Postnatal growth retardation Growth delay as children 0008897 Premature thelarche Premature breast development 0010314 Prominent fingertip pads Prominent finger pads 0001212 Proptosis Bulging eye Eyeballs bulging out Prominent eyes [rarediseases.info.nih.gov]

• Hyperreflexia

  In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation), and seizures. [rarediseases.org]

  Defects in motor skills and coordination, sometimes accompanied with hypotonia and hyperreflexia may be seen. [symptoma.com]

  Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 High axial triradius 0001042 Hirsutism Excessive hairiness 0001007 Hyperactivity More active than typical 0000752 Hyperreflexia [rarediseases.info.nih.gov]

  0002007]　[0501] 　Frontal upsweep of hair　(前頭部の上向きの生え際)　[HP:0002236]　[17107] 　Generalized hypotonia　(全身性筋緊張低下)　[HP:0001290]　[0242] 　High axial triradius　(高位の軸三叉)　[HP:0001042]　 　Hirsutism　(多毛)　[HP:0001007]　[17112] 　Hyperactivity　(多動)　[HP:0000752]　[02204] 　Hyperreflexia [syndromefinder.ncchd.go.jp]

This syndrome presents with a complex clinical symptomatology, but the distinct facial and digital features, together with findings related to other systems should be indicative of this disease, and the initial diagnosis is made clinically. Once this syndrome is suspected, a full diagnostic workup should be performed, to establish all accompanying findings in these patients. Imaging studies, including X-rays, computed tomography (CT scan) or magnetic resonance imaging (MRI) should be done to evaluate the change in the skeletal system, while echocardiography is indicated to rule out the presence of congenital heart disease. Ophthalmoscopy, ENT examination, ultrasound of the abdomen and lung studies should be performed as well. With supporting evidence obtained from diagnostic procedures, genetic testing can be performed. Karyotype analysis, and in situ hybridization can detect mutations and microdeletions in CREBBP gene and the 16p13.3 segment, respectively. However, CREBBP mutations are established in only 55% of patients [14], which does not exclude the diagnosis, while EP300 gene mutations are established in less than 10% of individuals.

It is important to mention that patients with Rubinstein-Taybi syndrome are prone to develop malignant diseases, including tumors of the nervous system (oligodendroglioma, medulloblastoma, meningioma), as well as lymphomas and leukemias.

• Delayed Bone Age

  Additional observations include maternal pre-eclampsia (2/9), syndactyly (3/9), feeding or swallowing issues (3/9), delayed bone age (2/9) and scoliosis (2/9). [ncbi.nlm.nih.gov]

  Other features include cryptorchidism, microcephaly, speech delay, delayed bone age, gastroesophageal reflux, coloboma, renal abnormalities and congenital heart defects. The prevalence is ~ 1/125,000 live births (Stevens 2014; Milani et al. 2015). [preventiongenetics.com]

  Not every individual has all the characteristics, however, the following is a list of the reported traits: • Broad thumbs and/or toes (sometimes angulated) • Mental retardation (from mild to severe) • Beaked nose • Short stature (delayed bone age) • Broad [aapos.org]

Treatment of patients with Rubinstein-Taybi syndrome requires a multidisciplinary approach and consists of rehabilitation and supportive therapy together with management of accompanying comorbidities and findings [15]. Mental retardation open link and cognitive difficulties require special forms of education, speech and behavioral therapy, and various other measures of mental rehabilitation, which can present a significant challenge. Growth should be closely monitored, and correction of other findings is necessary. Physical therapy and exercise are indicated in all patients, with an attempt to reduce musculoskeletal changes that may impair the normal functioning of patients.

Congenital heart disease, cryptorchidism, and presence of either benign or malignant tumors, are all indications for surgical treatment, but patients with this syndrome are quite prone to laryngeal and tracheal wall collapse, which can significantly complicate the process of anesthesia and intubation [16]. Management of other findings, such as renal, ocular, and skin manifestations should be done accordingly, and a long-term follow-up of patients is necessary for ensuring a good quality of life.

Overall survival rates are good, patients frequently reach adulthood, but accompanying comorbidities may reduce life expectancy that is estimated to be normal in these patients. Growth and mental retardation present as a significant burden to the patient and the family, and congenital heart disease, recurrent respiratory infections, and other severe complications of this disease can significantly contribute to morbidity and mortality. Additionally, it is established that patients have an increased risk of developing malignant diseases, including lymphomas, leukemias, and tumors of the brain, such as meningioma and medulloblastoma, which can carry a poor prognosis if not diagnosed early [8].

The cause of Rubinstein-Taybi syndrome involves the chromosomal segment 16p13.3, and point mutations, translocations, or microdeletions of CREBBP, and the E1A-binding protein p300 (also known as EP300) [4]. The proteins of these genes act as co-activators of the process of transcription, and their roles are bridging of RNA polymerase II and DNA-binding transcription factors, chromatin rearrangements through performing the function of histone acetyltransferases, and other processes in gene expression. EP300 mutations and deletions have been established in patients with malformations of the skeletal system, such as broadening and angulation of fingers and toes, as well as facial abnormalities, which are the hallmarks of this disease [5]. It is understood that because these proteins are present in numerous cells, and perform some of the most important functions in the process of gene expression, several organs may be affected, including the heart, lungs, kidneys, the skin, testes, and the eyes.

The estimated prevalence for Rubinstein-Taybi syndrome vary, and is somewhere between 1 per 100,000-125,000 live births [6]. The majority of cases occur sporadically. Familial cases are extremely rare, and neither gender nor ethnic predilection has been documented.

It is not completely understood why the changes in the 16p13.3 segment and involvement of CREBBP and EP300 genes occur. It is assumed that the majority of mutations, microdeletions, or simple translocations occur de novo, while familial occurrence is extremely rare. As a result, defects in these regions lead to dysfunctional transcription process, because the proteins derived from these genes are co-activator of this process.

It is established that patients with Rubinstein-Taybi syndrome have some form of immune deficiency, which could be the primary reason why about 75% of patients have recurrent respiratory infections [7].

Although mutations that are presumed to be responsible for Rubinstein-Taybi syndrome have been identified, prevention of this syndrome is currently not possible. It is important to establish the diagnosis as early as possible, so that the development of complications, which can be life-threatening, can be reduced to a minimum. Proper therapy may significantly improve the life of the patient, and reduce the burden that this disease carries.

Rubinstein-Taybi syndrome is a very rare genetic disorder which includes several congenital anomalies such as mental retardation, growth abnormalities, broad and angulated thumbs and toes, and a variety of other symptoms. It was initially described in the 1960s [1], and the cause is presumed to be microdeletions, point mutations, or other types of changes in the chromosome 16p13.3 and cyclic adenosine-monophosphate-response element binding protein (CBP or CREBBP). This protein is active in numerous cells and organs and is involved in various metabolic and proliferative processes, such as chromatin remodeling, signal transduction pathway integration, and regulation of transcription [2]. As a result, its mutations lead to significant impairment of normal cellular functioning, leading to diverse symptoms involving multiple organs. The majority of cases are sporadic, but reports of Rubinstein-Taybi syndrome in monozygotic twins have been documented [3]. The prevalence of this genetic disease is estimated to be 1 per 100,000-125,000 live births, and the most prominent features of this syndrome include mental and growth retardation. Intellectual disability, short stature, feeding problems during the first months and years of life as well as growth failure are essential components of this syndrome and can be quite debilitating for the patient and the family. Facial and digital abnormalities are also characteristic features of this syndrome, including malformations of the ears, nose, lips, and other parts as well; abnormally broad and angulated fingers and toes are some of the most commonly encountered features. Other organs may be involved, including the testes, skin, heart, the skeletal system, and the kidneys, while more than 70% of patients experience recurrent respiratory infections, presumably because of defects in the immune response. The diagnosis is made by clinical criteria, and molecular analysis is shown to reveal mutations in approximately 55% of cases, which does not exclude the diagnosis. Goals of treatment are to reduce the burden of the disease by managing symptoms individually, through physical and mental rehabilitation, genetic counseling, and correction of accompanying findings, such as congenital heart disease, recurrent respiratory infections, and cryptorchidism.

Rubinstein-Taybi syndrome is a rare genetic disease that involves various organs, but primarily exhibits changes in the face and fingers, and virtually all patients have growth retardation and intellectual disability. It occurs in approximately 1 individual per 100,000, and it caused by mutations in genes and parts of chromosomes that are involved in the process of gene expression. These mutations are in extremely rare cases hereditary, and occur spontaneously in the vast majority of patients, for unknown reasons. These mutations lead to defective cellular functioning in numerous organs and systems, and the most prominent pathological findings include growth failure in infants and severe intellectual disability, which presents as a significant burden to patients and their families. Various facial features, such as the underdeveloped jaw, beaked nose, low-set ears, and long eyelashes, are accompanied with broadening and angulation of thumbs, big toes, and other fingers. Additionally, patients may have congenital heart disease, which is diagnosed in a significant number of patients, as well as recurrent respiratory and urinary infections, vision problems, and various other changes. The diagnosis is primarily made upon clinical examination, and mutations of the involved genes are detected in about 50% of patients, which does not exclude the diagnosis. Treatment of patients with Rubinstein-Taybi syndrome is complex and necessitates both mental and physical rehabilitation, but also the management of accompanying comorbidities that may significantly influence the quality and duration of the patients' life. Special education, speech therapy, and physical rehabilitation are indicated for all patients, while surgery may be necessary to correct other defects. Patients with this syndrome carry a good prognosis in general, but significant intellectual disability, as well as the presence of other comorbidities, require long-term monitoring, which is a significant challenge.

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