Rather than memorize the essential findings for all or even most
of the multiple congenital anomaly syndromes, it is far more useful
for the clinician to develop a strategy for syndrome recognition
that is both logical and practical, yet flexible enough to generalize among
genetic conditions. Important to this strategy is the availability
of information about genetic disorders that is accurate, succinct,
and complete. Many texts and online databases provide this information.
Moreover, these online resources are becoming increasingly available to
families of children with genetic conditions. Consequently parents
are frequently very knowledgeable about the diagnosis of a rare condition
even before their primary care practitioner has had a chance to
discuss it with them. Nevertheless, many of the concepts that are
required for total comprehension of the implications of a condition
are difficult to grasp. Consequently, the pediatric practitioner must
be able to explain the principles of human genetics to different
families with varied conditions.
It is beyond the scope of this chapter to provide a comprehensive
description of the hundreds of relatively common genetic conditions or
the thousands of rare genetic disorders. Thus, Table
176-1 is designed to summarize the main features and inheritance
and gene locus/product (if known) of some of the better-known
multiple congenital anomaly/dysplasia syndromes not elsewhere
covered in this section. The reader is referred to the various genetic
texts and online resources that discuss the conditions in more detail.
Table 176-1. Multiple
Congenital Anomaly Syndromes |Favorite Table|Download (.pdf)
Table 176-1. Multiple
Congenital Anomaly Syndromes
|Disorder||Major Manifestations||Laboratory/X-ray||Inheritance (OMIM #)||Gene Locus/Gene Product|
|Ataxia-telangiectasia (see Chap. 188)||Growth deficiency; CNS deterioration; ataxia; telangiectasia; frequent
infections; malignancies||Immunodeficiency (deficient T cell, low IgA), increased frequency
of some breaks; ↑ AFP, chromosome 11q22||AR (208900)||11q22/ATM peptide|
|Xeroderma pigmentosum||Extreme photosensitivity; skin atrophy; pigmentary changes;
malignancies||Defective DNA repair in UV light; UV-induced sister chromatid
exchange; several subtypes mapped to different chromosomes||AR (278700) multiple complement groups: A, C, D, E, F, G||9q22/XPA peptide|
|Bloom syndrome (see Chaps. 188, 359)||Prenatal growth deficiency; microcephaly; malar hypoplasia;
facial telangiectasia; malignancies||Increased chromosome breaks and sister chromatid exchanges;
chromosome 15q26.1||AR (210900)||15q26/DNA helicose|
|Fanconi anemia||See syndromes of limb defects with hematologic abnormalities,
|Goldenhar (oculoauricularvertebral dysplasia spectrum/OAV)||See syndromes associated with branchial arch derivative anomalies
|Treacher Collins syndrome (mandibulofacial dysostosis)||See syndromes associated with branchial arch derivative anomalies
|Velocardiofacial syndrome||See syndromes associated with cleft lip and/or palate (Table 177-1)|
|Van der Woude syndrome||See syndromes associated with cleft lip and/or palate (Table 177-1)|
|Nager syndrome||See syndromes associated with branchial arch derivative anomalies
|Kabuki syndrome (Niiakawn-Kuroki)||See syndromes associated with cleft lip and/or palate
|Stickler syndrome||See syndromes associated with cleft lip and/or palate (Table 177-1)|
|Oral-facial-digital syndrome ...|
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