Information

Table 2: Comparison of the main clinical findings in individuals with different genetic variants of Cornelia de Lange Syndrome.

Table 2: Comparison of the main clinical findings in individuals with different genetic variants of Cornelia de Lange Syndrome.

NR =Not reported
++++ = more than 90% of individuals
+++ = 70-89% of individuals
++ = 50-69% of individuals
+ = 20-49% of individuals
- = less than 20% of individuals

The different genes linked to Cornelia de Lange Syndrome
 NIPBLSMC1ASMC3BRD4HDAC8RAD21ANKRD11
Growth
Prenatal growth retardation++++++++++++−
Short stature+++++++++++++
Microcephaly(decreased head size)++++++++++++++
Head and facial features
Wide skull shape+++++++++++++
Low frontal hairline+++++++++++++++
Arched, thick eyebrows++++++++++++++++++++
Meeting of the eyebrows in the midline+++++++++++++++++++++
Long eyelashes++++++++++++++++
Flattened nasal bridge++++++++A*
Nose tip upturned++++++++++++++++
Wide tip of nose+++++++++−++
Long, smooth philtrum (vertical indentation in the middle area of the upper lip)+++++++++++++++
Thin upper lip++++++++++++++++++
Downturned corners of the mouth+++++++++++++++−
Highly arched palate+++++++++
Widely spaced teeth+++++−++−B*
Small, underdeveloped jaw++++++++++−
Low-set and malformed ears++++−++−
Body
Absence of few or all fingers+−−−−−−
Small hands++++++++++++++++++++
Thumbs attached close to wrists+++++++++++++−
Bent or shorter fifth finger++++++++++++++
Small feet+++++++++NR+++++++
Abnormally increased hair growth++++++++++−+++++
Heart problems++++++−
Abnormal vertebrae (bones forming the backbone)−−+−−+++++
Cognition and behaviour
Intellectual disability/learning disability (any degree)+++++++++++++++++++++++++
Autism spectrum disorder+++−+++
Self-injurious behaviour++++NR++−++
Stereotypic movements (repetitive, simple movement that can be suppressed)++++NRNR−−−

A* = Prominent nasal bridge rather than flattened nasal bridge
B* = Teeth are not widely spaced but are larger than normal

Find andre sidder der deles de sammen emne som den side Moleculair diagnostic criteria16
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).

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Senest ændret af Gerritjan Koekkoek den 2022/09/29 16:10
Oprettet af Gerritjan Koekkoek den 2019/03/27 15:09
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