Colombia has a high prevalence of mucopolysaccharidosis (MPS) type IVA. Nevertheless, data regarding the mutation spectrum for MPS IVA in this population have not been completely characterized. Forty-seven families and 53 patients from seven different Colombian regions were tested for MPS IVA mutations. We compared the sequences with the N-acetylgalactosamine-6-sulfatase (GALNS) reference sequence

Molecular diagnosis is important to provide accurate genetic counseling of skeletal dysplasias (SD). Although next-generation sequencing (NGS) techniques are currently the preferred methods for analyzing these conditions, some of the published results have not shown a detection rate as high as it would be expected. The present study aimed to assess the diagnostic yield of targeted NGS combined with

Patients with hypermobile Ehlers–Danlos syndrome, an hereditary disorder of the connective tissue, often face a long and difficult diagnostic odyssey in pursuit of a name for their condition. Clinicians may dismiss subjective symptoms of chronic pain, thus prolonging patients' odysseys and worsening their care and satisfaction and creating antagonisms in the patient–provider relationship. A greater

Latin American geneticists have been contributing to the scientific development of Human and Medical Genetics fields since the early 1950s. In the last decades, as Medical Genetics is moving toward a new era of innovative therapies for previously untreatable conditions, the participation of Latin America in clinical trials is also increasing. This review discusses the particularities regarding funding

Maple urine syrup disease (MSUD) is an autosomal recessive disorder characterized by deficient activity of the branched-chain alpha ketoacid dehydrogenase (BCKAD) enzymatic complex due to biallelic variants in the alpha (BCKDHA) or beta (BCKDHB) subunits or the acyltransferase component (DBT). Treatment consists in leucine (LEU), isoleucine (ILE), and valine (VAL) (branched-chain amino acids) dietary

Several Mendelian disorders follow an autosomal recessive inheritance pattern. Epidemiological information on many inherited disorders may be useful to guide health policies for rare diseases, but it is often inadequate, particularly in developing countries. We aimed to calculate the carrier frequencies of rare autosomal recessive Mendelian diseases in a cohort of Brazilian patients using whole exome

Diagnosis of individuals affected by monogenic disorders was significantly improved by next-generation sequencing targeting clinically relevant genes. Whole exomes yield a large number of variants that require several filtering steps, prioritization, and pathogenicity classification. Among the criteria recommended by ACMG, those that rely on population databases critically affect analyses of individuals

This is a literature review of publications describing artworks that include depictions of individuals with suspected genetic conditions or congenital anomalies. Types of artwork described in the identified papers included drawings, paintings, sculptures, carvings, or pottery. The papers included in this review consisted of general reviews, reviews of depictions of specific conditions, reviews of individual

This article describes Dr. M. Michael Cohen, Jr.'s passion for art and music. His two sons share family memories and photos. Dr. Cohen developed a keen interest in the visual arts, collecting lithographs, enjoying many art exhibits, and conducting original research on Picasso's art. His interest in faces formed a central connection between his professional life and his artistic interest. His love of

This essay describes the author's reflections as a contemporary artist who was the sister of a woman with Turner syndrome. She reflects on the process of creating a painting which is literally about X and 0, but conveys deeper artistic and personal themes.

Prerequisite to establishing a diagnosis, healthcare providers must detect and appreciate subtle cues to dysfunction, disease and dysmorphology. A medical school course designed to connect art observation and diagnosis addresses the ongoing erosion of careful looking, which is at the core of detecting malformations and dysmorphologies, among other medical conditions. We present an example from within

Astute observation is a fundamental skill in medical care because not only it is crucial for the detection of patients' emotions (which is a prerequisite for empathy) but also it can often yield diagnoses at first sight. The Germans call this technique “augenblickdiagnose,” and indeed, gestalt diagnosis together with systematic review is used by dysmorphologists to identify syndromes. Artists have

A physician learns to appreciate art by first learning the human form through dysmorphology, and via the art collection of physician Dr. Albert C. Barnes and the Barnes Museum (Philadelphia, PA).

The experience of art provides the visitor of a museum or gallery with the opportunity to contemplate and share the human condition both from the physical and psychological point of view. Because of the accessibility and the number of museums throughout Europe, classical European art as both sculpture and painting, affords the viewer the opportunity to experience life from one part of the world over

Symmelia (alias sirenomelia, mermaid malformation) is one of the most distinctive malformations which, not surprisingly, has attracted the attention of many artists, writers and other observers of the human condition. Works of art depicting symmelia date back at least two millennia. Some are anatomically based while others are more fanciful creations intended to stir the imagination. The figure of

A marginal illustration of a non-ambulatory child in the 14th Century Luttrell Psalter is the earliest currently identifiable image of an individual with Split Hand Split Foot with Long Bone Deficiency (SHFLD). Changes in portrayal of SHFLD over the centuries reflect changes in social perception of disabilities from pious sympathy to scientific curiosity and unfortunately also morbid fascination. Hopefully

Arachnodactyly, a term used since 1902 to describe abnormally long (spider-like) fingers, is a pathologic feature of several heritable conditions, notably the Marfan syndrome and congenital contractural arachnodactyly. A number of prominent artists, dating from the 16th to the 20th centuries, have depicted subjects with unusually long fingers, sometime associated with elongation of the body, neck and

We report two prints (a woodcut from the 17th century and an engraving from the 18th century) that likely show individuals with PIK3CA-Related Overgrowth Spectrum (PROS). These prints are likely the earliest known depictions of this complex condition.

Individuals with overgrowth have been the subjects of numerous myths and art pieces in various cultures, often depicted as deities or creatures of divine origin, such as giants or titans. In more recent times, however, subjects with signs of generalized or segmental overgrowth have been considered as “freaks of nature,” in the disparaging language of the time, and represented in artworks as elements

In this article, we analyze several works of art which portray individuals with short stature (“dwarfism”). We have focused on eight individuals who we believe have short stature due to growth hormone deficiency (GHD) or closely related disorders, rather than skeletal dysplasia. We discuss them individually, suggest the potential diagnosis, review the characteristics of their life and personal history

Dwarfism has been depicted in various Chinese art forms including literature, sculpture, and painting. This article examines several representative Chinese works of art from different ages of Chinese history, in order to glimpse the living situations of people with dwarfism, their professions and social status, as well as the social attitude toward them in China. We highlight “山海经” (Shan Hai Jing,

People with skeletal dysplasias have left traces in art and antiquities through ages and cultures worldwide, in Ancient Egypt, Classical Greece, Sub-Saharan Africa, Asia, and Europe. Such traces record the impact of people with skeletal dysplasia on society and culture—in daily life, religion, and mythology. However, identifying (“diagnosing”) skeletal dysplasia in artifacts and interpreting what such

Virgin and Child, a painting attributed to a follower of Andrea Mantegna completed around 1460, is currently in storage at the Museum of Fine Arts in Boston. With special supervised permission, I have visited the painting three times to assess whether this Christ child might have Down syndrome. My conclusion evolved each time—as did my appreciation for the synergy between physicians and art historians

Just over a century ago, Dr. Gertrud Hurler described what is now commonly called Hurler syndrome. This rare inherited condition became known by terms describing its cardinal physical signs; the eponymous name was not proposed. In 1936, Ellis et al. coined the term “gargoylism” to name the syndrome. We propose that the film The Hunchback of Notre Dame played a key role in the original association of

Neurocutaneous syndromes are a group of genetic disorders affecting the skin, the central and peripheral nervous system, and the eye with congenital abnormalities and/or tumors. Manifestations may also involve the heart, vessels, lungs, kidneys, endocrine glands and bones. When people with these disorders are portrayed in works of art, physicians have speculated on possible diagnoses. In particular

Mythical figures have been part of human cultural tradition for centuries, worldwide. Some of them were totally imaginary, others were likely inspired by individuals with malformation syndromes, while others are composites of parts of different species. Various artists have created works of art based on these mythical or hybrid beings, such as cyclops and chimeras. The plethora of representations of

Conjoined twinning is a rare birth defect estimated to occur in about 1 in 50,000 to 100,000 births. The mechanism of conjoined twinning is not proven. Different forms of conjoined twinning are observed with the thoracopagus form being the most common. The rate of conjoined twinning is similar across all major populations. A dramatic malformation of this type would be an extraordinary occurrence leading

Indigenous Art often expresses the complex culture of their creators and provides insight into the origins, histories, and values of that culture. Two examples of Northwest Indigenous Art suggest deeper meanings and the “power” of congenital anomalies.

The Moche were a pre-Hispanic, pre-Incan people who inhabited northwestern Peru from 50 to 850 AD and left behind a large body of ceramic artwork. We present 26 pieces from 5 museums, which seem to show individuals with malformations, minor anomalies, and possible genetic syndromes. Possible diagnoses include cleft lip and palate, ocular anomalies such as hypertelorism and orbital dystopia, oligo-

In humans, physically attractive faces are measurably, though subtly, asymmetric. As asymmetry increases, it has a negative impact. Medically, asymmetry can be congenital or acquired. Symbolically, it has varied connotations from playfulness and complexity to despair and corruption. In Chinese opera, stylized make-up exaggerates the features, and aspects of the “mask” indicate qualities of the character

Several teratologic collections containing specimens with malformations and syndromes are maintained in a number of Dutch anatomical museums. Technically, these are not works of art or antiquities. However, many have been depicted in illustrations of such high quality that they merit discussion here. We review a selection of specimens and their artistic portrayals which find their origin in four Dutch

Mucopolysaccharidosis type II (MPS II) is an X‐linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate‐2‐sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. MPS II has wide allelic and clinical heterogeneity

The last military dictatorship in Argentina (1976–1983), committed egregious violations of human rights, including torture assassinations and disappearance of 30,000 political dissidents as well as friends and relatives. This included hundreds of pregnant women who were kept in clandestine detention centers and killed after delivering their babies in abject conditions. The succeeding democratic governments

Latin America is a region consisting of 20 countries that present a wide diversity in terms of a geographic area as well as demographics, ethnicity, economy, social, and healthcare systems. This diversity also applies to the newborn screening (NBS) activities, as demonstrated by the start dates and modalities of implementation as organized programs, the panel of diseases screened for, the available

Microdeletion syndromes (MSs) are a heterogeneous group of genetic diseases that can virtually affect all functions and organs in humans. Although systems biology approaches integrating multiomics and database information into biological networks have expanded our knowledge of genetic disorders, cytogenomic network‐based analysis has rarely been applied to study MSs. In this study, we analyzed data

In an era of increasing technology and interaction with the patient bedside, we explore the role of relocating the bedside from the hospital to the home using telemedicine. The COVID‐19 pandemic pushed telemedicine from small and pilot programs to widespread practice at an unprecedented rate. With the rapid implementation of telemedicine, it is important to consider how to create a telehealth system

Parents use the internet to connect with their peers and access information about a multitude of health topics, including newborn screening (NBS). As the NBS system evolves, education about NBS must be evaluated and updated to remain accessible and beneficial to parents. In this article, we aim to describe parents' current NBS educational needs and highlight areas to improve newborn screening education

The COVID‐19 pandemic necessitated a rapid transition from in‐person office visits to virtual visits in the Down syndrome specialty program at Massachusetts General Hospital (MGH DSP). We describe the clinic transition to virtual visits in April 2020 and reflect on our six‐month experience in virtual visits. Clinic metrics were tracked. Electronic survey responses were collected from caregivers attending

Exome and genome sequencing are increasingly utilized in research studies and clinical care and can provide clinically relevant information beyond the initial intent for sequencing, including medically actionable secondary findings. Despite ongoing debate about sharing this information with patients and participants, a growing number of clinical laboratories and research programs routinely report secondary

To meaningfully address health disparities in access to genomic testing, major developments in the infrastructure to support delivery of care are needed. The current value chain for delivering genomic medicine is fragmented, with poor communication between the stakeholders who order, perform, and reimburse for genetic tests. Standards, connectivity, and scaled expertise are needed to reach more people

The COVID‐19 pandemic has led to a reorganization of health systems to prioritize the fight against the virus. The adoption of social distancing interfered with the flow of existing policies, and may thus negatively affect the most vulnerable groups, such as the rare disease community. Aimming at characterizing the perception of the impact of COVID‐19 on the health care of the Brazilian rare disease

Birth defects are structural or functional defects present at birth and are caused by different factors that affect intrauterine development. They are the second most common cause of death under five years of age in Latin America and the Caribbean. In Bogotá and Cali, Colombia, there are two surveillance programs established to evaluate the prevalence of them. The purpose of the following article is

GM2 gangliosidosis, Tay‐Sachs and Sandhoff diseases, are lysosomal storage disorders characterized by the lysosomal accumulation of GM2 gangliosides. This accumulation is due to deficiency in the activity of the β‐hexosaminidases Hex‐A or Hex‐B, which are dimeric hydrolases formed by αβ or ββ subunits, respectively. These disorders show similar clinical manifestations that range from mild systemic

We report the clinical and molecular data of a large cohort comprising 242 individuals with RASopathies, from a single Tertiary Center in Brazil, the largest study from Latin America. Noonan syndrome represented 76% of the subjects, with heterozygous variants in nine different genes, mainly PTPN11, SOS1, RAF1, LZTR1, and RIT1, detected by Sanger and next‐generation sequencing. The latter was applied

This article reports the present situation of Brazilian health care in genetics for Orofacial Cleft (OFC) and 22q11.2 Deletions Syndrome (22q11.2 DS) based on research conducted by Brazil's Craniofacial Project (BCFP). Established in 2003, BCFP is a voluntary and cooperative network aiming to investigate the health care of people with these diseases and other craniofacial anomalies. The initiatives

We review studies from our laboratories using different molecular tools to characterize the Amerindian, European and African ancestry of Brazilians. Initially we used uniparental DNA markers to investigate the contribution of distinct Y chromosome and mitochondrial DNA lineages to present‐day populations. High levels of genetic admixture and strong directional mating between European males and Amerindian

Our 25 years of experience in carrier diagnosis of hemophilia A (HA) and B (HB) in Mexican population comprises linkage analysis of intragenic F8/F9 neutral variants along with, in severe HA (SHA), detection of F8 int22h and int1h inversions. In symptomatic carriers (SCs) we explored Lyonization to explain their symtomatology. From a DNA‐Bank of 3,000 samples, intragenic restriction fragment length

Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 primary findings were reported in 158 patients, representing an overall diagnostic yield of 31.6%. Most of the findings (61.6%) corresponded to autosomal dominant

Most of the geographically isolated island nations in the Caribbean have small populations and low gross national product. As such, many lack important medical and community services. Difficulties are compounded when attempting to care for children with special needs and genetic disorders such as Down syndrome. International charitable organizations can help to provide much needed specialty medical

The aim of this study was to perform 22q11.2 deletion screening and chromosomal microarray analysis (CMA) in individuals clinically diagnosed with craniofacial microsomia (CFM) and review previously published cases of CFM with genomic imbalances. It included 54 individuals who were evaluated by a clinical geneticist. Copy number variants (CNVs) in the 22q11.2 region were investigated by multiplex ligation‐dependent

Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources available in Latin America, including three specific countries (Brazil, Argentina, and Chile), that have established multidisciplinary clinics for the

There is a shortage of genetics providers worldwide and access is limited to large academic centers. Telemedicine programs can facilitate access to genetic services to patients living in remote locations. The goal of this study was to improve access to genetic services in the Dominican Republic by creating a partnership model between a pediatrician and geneticist. This approach has been used within

We report the case of a 17‐year‐old girl with Tyrosinemia type 1a who carried a planned pregnancy to term while being under 2‐(2‐nitro‐4‐trifluoromethylbenzoyl)‐1,3‐cyclohexanedione (NTBC, nitisinone) treatment and a tyrosine‐ and phenylalanine‐restricted diet. She was on treatment since 2 months of age with poor metabolic control prior to her pregnancy (tyrosine 838 ± 106 umol/L). NTBC and a low tyrosine

Hypertrichosis is a rare condition characterized by excessive hair in areas of the body that are not predominantly androgen dependent. We can identify three main syndromes with congenital generalized hypertrichosis terminalis described in Mexico. The first is X‐linked generalized hypertrichosis, an ultra‐rare disease, with few cases reported to date. The second is Cantú syndrome, also known as hypertrichotic

Mutations in three genes (APP, PSEN1, and PSEN2) are the main cause of the autosomal dominant early‐onset Alzheimer's disease (AD‐EOAD). In PSEN1, the A431E (c.1292C>A, rs63750083) mutation is suspected to have exerted a founder effect in the State of Jalisco, Mexico. In Guadalajara, Jalisco, Mexico, this mutation was found in 46 index cases evaluated for AD‐EOAD. In our genealogical analysis, 301

We describe our experiences with organizing pro bono medical genetics and neurology outreach programs on several different resource‐limited islands in the West Indies. Due to geographic isolation, small population sizes, and socioeconomic disparities, most Caribbean islands lack medical services for managing, diagnosing, and counseling individuals with genetic disorders. From 2015 to 2019, we organized

Our aim was to characterize the phenotype and genotype of individuals with Noonan syndrome in Colombia. There are published cohorts of Noonan individuals from several countries in Latin America including Brazil, Chile, and Argentina, but none from Colombia. We described 26 individuals with NS from a single large referral center in the South West of Colombia using an established database in the genetics