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Box 1: Clinical features of Cornelia de Lange Syndrome

Box 1: Clinical features of Cornelia de Lange Syndrome

Feature	Cardinal Features¹	Suggestive features²
Meeting of the medial eyebrows in the midline and/or thick eyebrows	X
Short nose	X
concave nasal ridge (nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip)	X
nose with an upturned tip	X
Long, indistinct philtrum (vertical indentation in the middle area of the upper lip)	X
Thin upper lip	X
downturned corners of mouth	X
Presence of fewer than the normal number of fingers and/or absence of fingers or toes from birth	X
Congenital diaphragmatic hernia (abnormal opening in the diaphragm present from birth)	X
Global developmental delay and/or intellectual disability/learning disability		X
Prenatal growth retardation (restricted growth prior to birth)		X
Postnatal growth retardation (restricted growth after birth)		X
Microcephaly (decreased size of head, can occur prior to or after birth)		X
Small hands and/or feet		X
Short fifth finger		X
Abnormally increased hair growth		X

^ considered to be the most common; 2 points each if present
^ less specific to CdLS; 1 point each if present

Clinical score

11 points and above, of which at least 3 are cardinal: classic CdLS
9 or 10 points, of which at least 2 are cardinal: non-classic CdLS
4-8 points, of which at least 1 is cardinal: individual should be genetically tested for CdLS
Less than 4 points: insufficient to indicate genetic testing for CdLS should conducted

Encontrar outras páginas que partilhem o mesmo tópico que esta página Introduction2

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

Histórico da página

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

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

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Box 1: Clinical features of Cornelia de Lange Syndrome

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Vereniging Cornelia de Lange syndroom

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