Scientific Hand Charts Collection:
Cornelia de Lange syndrome!
3 Hand Charts for Cornelia de Lange syndrome!
Cornelia de Lange syndrome - often termed Bushy Syndrome or Amsterdam dwarfism - is a very rare genetic disorder present from birth, but not always diagnosed at birth; it causes a range of physical, cognitive and medical challenges and affects both genders.
Prevalence: estimated at 1 in 15,000 live births.
Quite a few detailed hand charts are available for Cornelia de Lange syndrome; most charts describe the significance of various typical features inside especially the dermatoglyphics, which manifest often combined with a simian line (= single transverse flexion crease) and/or a single interphalangeal crease on the pinky finger.
NOTICE: Individual hand features described below should not get associated in isolation with any theme; only combinations involving multiple hand levels have potential for diagnostic purposes.
Hautleistenfibel (1981), p.112;
authors: A. Rodewald & H. Zankl
Dermatoglyphics in Medical Disorders (1976), p.197;
authors: B. Schaumann & M. Alter
Handbook of Clinical Dermatoglyphs (1971), p.45;
authors: M.S. Elbualy & J.D. Schindeler
Other significant hand signs (not reported inside the hand charts):
In most infants with Cornelia de Lange syndrome, the hands show various mild defects such as: small hands for their size [micromelia]; the thumbs may be abnormally positioned - i.e. proximally placed; in addition, affected individuals may have short fingers that become smaller and thinner toward the ends (tapered fingers), fifth fingers that are permanently curved toward the ring finger (clinodactyly), and/or, in up to 30% absence of one or more fingers [oligodactyly] - see first picture below (source: NORD).
Hypoplasia of the medial phalanx of the fifth finger (or 2nd finger) and hypoplasia of the first metacarpal (resulting in a short, thick bone) is very specific for CdLS, and affects 90% of postnatally evaluated patients [Braddock et al., 1993].
A high proportion of the infants also has one or more structural defects; a summary of the most common variations has been described in the article Characterization of Limb Differences in Children With Cornelia de Lange Syndrome (2016).
Delayed motor development is also a typical feature - though fine motor skills are developed relatively well (source: Medscape).
(source: European Journal of Medical Genetics).
All significant hand signs listed above for Cornelia de Lange syndrome together cover four out of the nine perspectives of the hand as defined according Multi-Perspective Hand Reading (including hand level 2, 5, 8 & 9).
A summary of the most significant hand sign combinations in Cornelia de Lange syndrome is described here:
Decoding the language of the hand:
hand sign combinations in Cornelia de Lange syndrome!
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NOTICE: Reflexology hand charts are not included in this section because the scientific foundation of any of such charts is actually unknown; nevertheless, you can read more about the fundamentals of such charts HERE.
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