J Korean Soc Plast Reconstr Surg.  2004 Jul;31(4):567-571.

Syndactyly of Feet Associated with Cornelia de Lange Syndrome

• Roh SG
• Lee NH
• Yang KM

Abstract

Cornelia de Lange syndrome was first described by Brachmann in 1916 and later reported by Cornelia de Lange in 1933. It is a rare malformation and retardation syndrome of unknown causes, with characteristic abnormalities including microcephaly, short stature, heavy eyebrows, long eyelashs, strabismus, small nose with anteverted nares, long philtrum, micrognathia, hypoplastic nipples and umbilicus, flexion contracture of elbows, micromelia and hirsutism. Rare cases of possible autosomal-recessive and autosomal-dominant inheritance have been reported. Severe growth and mental retardation are common. Aspiration, apnea, bowel obstruction, and cardiac defects constitute significant dangers during infancy. Failure to thrive is the rule. Also they have common anomaly of upper & lower extremity, example of proximally placed thumbs, clinodactyly of the fifth finger and syndactyly of the second and third toes. We present a case of Cornelia de Lange syndrome, associated with syndactyly of the great toes and the second toes.

Keyword

Cornelia de Lange syndrome; Syndactyly

MeSH Terms

Apnea
Contracture
De Lange Syndrome*
Elbow
Eyebrows
Failure to Thrive
Fingers
Foot*
Hirsutism
Intellectual Disability
Lip
Lower Extremity
Microcephaly
Nipples
Nose
Strabismus
Syndactyly*
Thumb
Toes
Umbilicus
Wills