Multiple dysmorphic features in a patient with Pitt-Rogers-Danks syndrome: microcephalia, micrognathia and protrusion of the eyeballs
A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome, or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals.[1] Clinical geneticists and pediatricians
are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood.
Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association.[2] Recognizing the patterns of dysmorphic features is an important part of a geneticist's diagnostic process, as many genetic disease present with a common collection of features.[1] There are several commercially available databases that allow clinicians to input their observed features in a patient to generate a differential diagnosis.[1][3] These databases are not infallible, as they require on the clinician to provide their own experience, particularly when the observed clinical features are general. A male child with short stature and hypertelorism could have several different disorders, as these findings are not highly specific.[1] However a finding such as 2,3-toe syndactyly is raises the index of suspicion for Smith-Lemli-Opitz Syndrome.[4]
Dysmorphic features are invariably present from birth, although some are not immediately apparent upon visual inspection. They can be divided into groups based on their origin, including malformations (abnormal development), disruptions (damage to previously normal tissue), deformations (damage caused by an outside physical force) and dysplasias (abnormal growth or organization within a tissue).[1][2]
References
^ abcdeReardon, W.; Donnai, D. (2007). "Dysmorphology demystified". Archives of Disease in Childhood: Fetal and Neonatal Edition. 92 (3): F225–F229. doi:10.1136/adc.2006.110619. PMC 2675338. PMID 17449858.
^ abMaitra, Anirban; Kumar, Vinay (2004). "Diseases of Infancy and Childhood". In Kumar, Vinay; Abbas, Abul L.; Fausto, Nelson (eds.). Robbins and Coltran Pathologic Basis of Disease (7th ed.). Philadelphia: Elsevier. pp. 469–508. ISBN 978-0-7216-0187-8.
^j.-p., F.; De Ravel, T. D. (2002). "London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM \Version 3] 2001". Human Genetics. 111 (1): 113. doi:10.1007/s00439-002-0759-6. PMID 12136245.
^Nowaczyk, M. J.; Waye, J. S. (2001). "The Smith-Lemli-Opitz syndrome: A novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology". Clinical genetics. 59 (6): 375–386. doi:10.1034/j.1399-0004.2001.590601.x. PMID 11453964.
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English Journal
A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate.
Liu YH, Xie RG, Zhang XY, Wei SD, He Y, Xu WF, Lin YY, Xiong F.SourceDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong, China; Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan 523112, Guangdong, China.
Gene.Gene.2012 Nov 1;509(1):164-7. doi: 10.1016/j.gene.2012.07.052. Epub 2012 Aug 8.
We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p12-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis was conducted on umbilical cord blood for a fetus accompanied with tricuspid regurgitation and orbital hypertelorism from a 27-year-old
15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.
Madrigal I, Rodríguez-Revenga L, Xunclà M, Milà M.SourceCIBER de Enfermedades Raras (CIBERER), Barcelona, Spain; Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain.
Gene.Gene.2012 Oct 15;508(1):92-5. Epub 2012 Jul 25.
Genomic rearrangements of chromosome 15q11-q13 are responsible for diverse phenotypes including intellectual disabilities and autism. 15q11.2 deletion, implicating common PWS/AS breakpoints BP1-BP2, has been described in patients with delayed motor and speech development and behavioural problems. He
