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Jonathan Hutchinson (Fig. ​(Fig.1a,1a, b), London surgeon of the latter half of the 19th century, was an exceptionally astute clinical observer. He was, furthermore, an assiduous and prolific recorder of observations over a wide range of fields. In his prime he did for many years all the onerous work of a surgeon at the London Hospital. He was president of the Royal College of Surgeons in 1888, and is said to have still been doing mastectomies at age 70. But he also worked at the Moorsfield Eye Hospital and in 1863 published a monograph entitled “A Clinical Memoir on Certain Diseases of the Eye and Ear, consequent on Inherited Syphilis,” containing early fundus portraits prepared by his long-time artist-illustrator Edwin Burgess, scarcely a decade after the invention of the ophthalmoscope. In addition, he worked at Blackfriar's Skin Hospital and was president of an international congress of dermatology (1896). He was a mentor and collaborator of pioneer neurologist Hughlings Jackson and president of the Neurological Society in 1887.

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Syndromes of congenital malformations are interesting and challenging phenomena which deserve observation, description and treatment of the children and adults who are afflicted by these multiple birth defects. However, the highest level of syndrome research is etiologic research, because knowledge of the causes of multiple congenital malformations promises prevention. Although naming syndromes and classifications are important auxiliary activities, they must not be our final goal. The infinite number of combinations of congenital defects suggests that terminology and classification should be tentative and flexible and that rigidity be avoided. The same holds for statements of causation. I tried to make it clear that we are far from a full understanding of all the principles involved in the etiology of malformations. Many unexpected discoveries along these lines have been made during my lifetime and many of those who pretended to have the final answers were shown to be wrong. It was particularly distressi...

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Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability. It was first described by Albert Schinzel as early as in 1979, but the diagnosis of this syndrome still remains challenging. Here we report a family with 2 sibs with acrocallosal syndrome caused by novel mutations in KIF7. They present with features like molar tooth sign and hyperventilation that are not very typical in ACLS, but do occur in other ciliopathies, hence we also discuss the clinical heterogeneity of KIF7-associated disorders.

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Clinical geneticists and syndromologists have traditionally focused on identifying syndromes in children. However, there is a growing acknowledgment of the need to describe adult phenotypes. This article provides an overview of the evolving phenotypes of rare genetic syndromes into adulthood, elucidating its challenges, opportunities, and future perspectives. The clinical phenotypes of four adults with Costello syndrome are described to illustrate these aspects. Phenotypic and genotypic data from four individuals broaden the spectrum of Costello syndrome in adulthood and highlight the high variability in neurocognitive outcome. The clinical data align with previous findings and established genotype-phenotype correlations. Interestingly, two individuals presented with recurrent cancers (bladder cancer and neuroblastoma). Further studies are imperative to provide reliable information for counselling and management to enable comprehensive understanding of the evolving features of rare syndromic diseases and special health issues into adulthood.

Objective of the Review: To analyze modern scientific research on clinical syndromology, genetic factors of epilepsy and cerebral palsy (CP), therapeutic tactics and outcomes. Key points. Multiple genetic factors contribute to the emergence of CP. With CP, low birth weight, neonatal seizures, epileptic seizures during the first year of life, a burdened family history of epilepsy, the severity of CP and the presence of changes in neuroimaging are associated with the risk of developing epilepsy. Children with CP may have Otahar, West, Lennox — Gastaut, syndromes-focal epilepsy of childhood with structural brain changes and benign epileptiform discharges in EEG — FECSB-BEDC. The selection of antiepileptic drugs in patients with epilepsy and CP is determined by the epileptic syndrome, cognitive, motor manifestations and side effects of the drug. Most of the failures of remission occur within the first year after discontinuation of therapy. Failure of remission is associated with a greater likelihood of subsequent development of pharmacoresistant epilepsy. Conclusion. Video EEG monitoring and spectral analysis of bioelectric activity of the brain can be of great importance for optimizing the management of patients with CP and epilepsy. In addition, the search for EEG criteria for the withdrawal of antiepileptic drugs in patients with a combination of CP and epilepsy, as well as predictors of failure of remission, remains relevant. Keywords: cerebral palsy, epilepsy, clinical syndromology, genetic factors, prognosis.

This chapter aims to educate dental clinicians, especially those who see children and adolescents such as orthodontists and pediatric dentists, in the valuable role that a clinical geneticist can play in the diagnosis and treatment of their patients. The question of when a patient case should be referred to a clinical geneticist is discussed, followed by a review of selected syndromes that may affect the craniofacial region and the oral tissues. The use of artificial intelligence (AI) and its integration into modern science by way of multiple medical specialties, including genetics, has helped transform the next generation of clinical practice. AI is increasingly used for clinical diagnosis, including with facial analysis as part of recognizing a variety of developmental/genetic conditions. The chapter closes with lists of selected syndromes that may be associated with traits such as premature tooth exfoliation, delayed tooth eruption, hypodontia/oligodontia, mandibular deficiency, cleft lip and palate, and so on.

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This paper provides an updated, comprehensive, critical review of the epidemiology, genetics, and syndromic aspects of holoprosencephaly and is divided into four parts. In the first part, epidemiologic aspects are discussed under the following headings: prevalence, temporal trends, socioeconomic status, exposure to environmental teratogens, maternal and paternal ages, pregnancy histories, and birth weights. The second part analyzes the facial phenotypes because the genetic and syndromic aspects of holoprosencephaly cannot be understood without knowledge of facial variability and its meaning. Topics discussed include cyclopia, ethmocephaly, cebocephaly, median cleft lip, and less severe facial dysmorphism. The third section, on genetics, analyzes associated anomalies, chromosomal and non-chromosomal holoprosencephaly, family studies, twin studies, genetics of nonsyndromic holoprosencephaly, and recurrence risks. The final section on syndromology summarizes 48 conditions in which some degree of holoprosencephaly may be a feature.

Numerical taxonomy is defined by Sneath and Sokal as the grouping of taxonomic units on the basis of their character states by numerical methods of multivariate data analysis, and syndromology as the study of multiple congenital anomaly (MCA) syndromes and of their nosology. We present here an application of those methods to the analysis of overlapping syndromes. The main advantage of numerical taxonomy is that it allows simultaneous objective and unweighted analysis of multiple traits, giving the possibility to test mathematically the clinical hypotheses about the heterogeneity between closely resembling syndromes and uncovering objective patterns of anomalies, to be compared with the subjective pattern recognition process which characterizes most of the diagnostic approach in syndromology. In this paper, we explored 5 syndromes whose most severe expression belongs to the cerebroacrovisceral early lethality (CAVE) phenotype: hydrolethalus, severe Smith-Lemli-Opitz, orofaciodigital type VI (Varadi-Papp), holoprosencephaly-polydactyly, and Pallister-Hall syndromes. Fifty-five published cases, including many overlapping cases, were submitted to principal factor analysis followed by hierarchical clustering and graphical scaling. Results show that the 5 syndromes clearly constitute independent phenotypic entities, that some of the original diagnoses have to be reconsidered, and that many of the overlapping cases may be unambiguously set in one category. Hypothalamic hamartoblastoma appears to be a nonspecific dysplasia occurring in any of the 5 disorders.

'Molecular Syndromology' aims to furnish the medical genetics community with clinically useful information regarding genetic and genomic disorders. The scope of Molecular Syndromology includes papers that elucidate the molecular and biochemical basis of the disease, genotype-phenotype correlations, and the prognosis and treatment options based on k

The midbrain represents the uppermost portion of the brainstem, containing numerous important nuclei and white matter tracts, most of which are involved in motor control, as well as the auditory and visual pathways. Notable midbrain nuclei include the superior and inferior colliculus nuclei, red nucleus, substantia nigra, oculomotor nuclear complex, and trochlear nucleus. In addition, white matter tracts include the brachium conjunctivum, medial and lateral lemniscus, spinothalamic tracts, and the fiber tracts within the cerebral peduncles. Although neurologically vital, many of these small midbrain nuclei and white matter tracts are not easily individually identified on neuroimaging. However, given their diverse functions, midbrain pathology often leads to distinct clinical syndromes. A review and understanding of the location and relationships between the different midbrain nuclei and fiber tracts will allow more precise correlation of radiologic findings with patient pathology and symptomatology. Particular syndromes associated with midbrain pathology include the Weber, Claude, Benedikt, Nothnagel, and Parinaud syndromes. The oculomotor and trochlear cranial nerves also reside at this level. An understanding of their functions as well as their projected courses from the midbrain towards the eye allows identification of distinct locations which are particularly vulnerable to pathology.

The syndromes, associations, and developmental field defects that include anorectal dysgenesis (atresia, stenosis, ectopia) as a principal or facultative sign are discussed. Most of these disorders are identifiable by their genetic or teratogenic etiology, their distinctive phenotype, or both. Their precise diagnosis is crucial for estimation of recurrence risk and other aspects of reproductive counseling, and it is essential for classificatory progress. The "VACTERL association" should not be used to label a patient with anorectal malformation and other anomalies except by exclusion; this rule is particularly relevant when the patient lacks tracheoesophageal malformation. The degree (or variety) of anorectal malformation that occurs in a given pattern of multiple congenital anomalies may be inconstant. Furthermore, anorectal malformation may be a solitary expression of a familial syndrome.

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