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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

	NIPBL	SMC1A	SMC3	BRD4	HDAC8	RAD21	ANKRD11
The different genes linked to Cornelia de Lange Syndrome
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)	++	++	NR	NR	−	−	−

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

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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).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 jul 2018

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Modificado por Gerritjan Koekkoek em 2022/09/29 16:10

Criado por Gerritjan Koekkoek em 2019/03/27 15:09

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

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