The presence of an unusually high plantar arch Fig. Note that this patient could also be said to have pes equinus , but that term is not included in the current terminology set. This is a subjective definition for which we could identify no thresholds or standards. Examiners must rely on their experience to make this assessment. A foot where the arch is in contact with the ground or floor when the individual is standing Fig.
In a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing. The second definition was conceived by this working group based on a commonsense analysis of how one could generalize the first definition to a non-ambulatory individual.
There are no data on this assessment and we invite feedback on its utility. Mesoaxial polydactyly of the hand, right. Note that this patient has heptadactyly, manifesting as well Postaxial polydactyly, type B. The figure also shows Small nail, F6 and Overlapping fingers F Mesoaxial polydactyly of the right foot.
This patient also has Cutaneous syndactyly of the toes, partial, T To determine this finding in the hand without using a radiograph see [ Allanson et al, b ] this issue, for a discussion of the use of radiographs , the examiner grasps two adjacent metacarpals, each with a thumb and index finger on the dorsum and palmar aspect of the hand and attempts to independently maneuver the metacarpals.
If they cannot be independently manipulated, osseous syndactyly is present [ Biesecker, ]. Consensus could not be reached on the utility of the bundled term of Mesoaxial polydactyly , so it is specified in the terminology for the time being. It is arguably superior to describe the two separate terms e. The utility of this term should be reviewed over time. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux.
Note that this patient also has Cutaneous syndactyly of numerous digits, notable on the right foot. This is considered to be a subjective assessment. It may be associated with a forearm that has two ulnae, but this is not required for the finding to be made. See Foot, postaxial polydactyly of; Hand, postaxial polydactyly of. See Hand, radial deviation of. Absent ray, right hand. Note that this patient also has Short distal phalanges of the fingers and Short nails.
Absent ray, left foot. Note that this patient also manifests a Broad hallux , which should be coded separately. This descriptor requires, in addition to the absence of the phalanges, absence of the metacarpal or metatarsal. Compare this to Thumb, absent , Hallux, absent , Toes, absent , and Fingers, absent. In most cases, the absent metacarpal or metatarsal can be assessed by palpation, but in some cases radiographs may be useful. This definition excludes Hand, split and Foot, split. If a patient meets the definition of either of those terms, they should be used and Ray, absent should not.
A widely spaced gap between the first toe the great toe and the second toe Fig. Sandal gap, right foot, subjective. The term is a subjective one but should be used when the gap between the toes is as wide as the second toe is broad. The contour of the foot in lateral profile has a convex shape Fig. Note the heel in this patient is not sufficiently prominent to warrant the descriptor of Rocker bottom foot. This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Foot, rocker bottom. Syndactyly; See Fingers, cutaneous syndactyly of; Toes, cutaneous syndactyly of; Foot, osseous syndactyly of; Hand, osseous syndactyly of ;.
Reduced palmar soft tissue mass surrounding the base of the thumb Fig. Note that this person also has Clubbing visible in the thumb only.
This patient also has Long palm, right hand, subjective. The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal.
When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally. See Finger, short distal phalanx of; Hallux, short distal phalanx of; Thumb, short distal phalanx of; Toe, short distal phalanx of.
The absence of both phalanges of a thumb and the associated soft tissues Fig. This descriptor does not require absence of the metacarpal. This definition excludes Partial absence of the thumb. Oligodactyly and hypodactyly have been replaced with more specific terms to allow the distinction of loss of a thumb from loss of F In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger Fig.
The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. Increased thumb width without increased dorso-ventral dimension Fig. There is substantial variability thumb width and it may be difficult to determine the threshold for this finding.
As it is commonly bilateral, comparing to the contralateral digit will not be helpful. Note that this term should not be used for thumbs that meet the definition for Macrodactyly. There is a standard for thumb width at birth of 9. The assessment is difficult when the thumb is short.
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The absence of a phalangeal segment of a thumb Fig. Note that this patient also has Absent fingers, F , and Absent finger F5, partial. This finding is distinct from Short thumb. The base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [ Malina et al. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb.
This term should not be used with Preaxial polydactyly. A thumb with three phalanges in a single, proximo-distal axis Fig. The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly.
See Foot, preaxial polydactyly of. The absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues Fig. Note that this descriptor does NOT require absence of the metatarsal. The affected digits should be specified, although this may be difficult. This definition excludes Partial absence of the toe. This absent toe definition excludes Absent hallux because it is usually obvious if the missing digit is a hallux. It may be difficult to distinguish an absent toe from two digits with an extreme degree of osseous and cutaneous syndactyly.
If all digits are missing, the term Adactyly should be used. Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension Fig. Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux.
If all five digits are broad, both terms should be used for that patient. Cutaneous syndactyly of the toes, complete, TT, left, objective. Note that his patient also has Preaxial polydactyly of the foot, partial , left. Cutaneous syndactyly of the toes, partial, T, bilateral, objective. As specified in the definitions, this finding is objective if the syndactyly extends more than half the proximo - distal length of the digits.
The definition of toe syndactyly is subtly different from that of the hand. The definition used for the hands was thought to be difficult with toes, as the phalangeal lengths are small and an assessment of the degree of syndactyly is impractical. Toe, great; all terms referring to the first toe are listed under Hallux or Toe. Digits that appear disproportionately long compared to the foot Fig. This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest Fig.
This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction item 3: The ordering of the numbers specifies which toe is dorsal, i. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly. The absence of a phalangeal segment of a toe or hallux Fig. Note that this is the same image as in Fig.
It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified note no attempt is made to distinguish missing middle from proximal phalanges. In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, which are reduced in length but have the normal number of phalangeal segments. Partial absence of the hallux is an alternative term that may be used for the first toe.
Digits that appear disproportionately short compared to the foot Fig. Note that this patient also has Short distal phalanges of toes T2,3. This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. Short distance from the end of the toe to the most distal interphalangeal crease or DIPJ flexion point Fig. Note that this patient also has Cutaneous syndactyly of toes T23, subjective. This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present.
Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Although flexion creases can be useful in the hand see Short distal phalanx of the finger, , this may not be practical in the foot.
Poland syndrome - Wikipedia
Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual Fig. This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered.
Defining Morphology: Hands and Feet
Note that this finding differs from Toes, widely spaced, because in splayed toes the toes have a divergent axis of orientation. This may be associated with Macrodactyly but this should be recorded separately. If the digits are not uniformly affected, they should be specified. If not specified, it refers to all the digits of the foot.
An overall widening of the spaces between the digits Fig. This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 see Sandal gap.
See Fingers, cutaneous syndactyly of; Toes, cutaneous syndactyly of. One end of the distal transverse crease is on the radial side of the hand proximal to the base of the index finger or the second interdigital space and extends toward the ulnar side of the palm. One end of the proximal transverse crease begins on the radial anterior side of the palm in the first interdigital space and extends across the palm towards, but does not typically reach, the ulnar side of the palm.
One end of the thenar crease is typically coincident with the radial part of the proximal transverse crease and extends proximally toward the wrist. See Palmar crease, single transverse. The absence of a major crease of the palm distal transverse crease, proximal transverse crease, or thenar crease Fig.
Note that this patient also has Long palm, subjective, left and Single transverse crease, right hand. A crease that connects the proximal and distal transverse palmar creases Fig. The crease that connects the two transverse creases should itself be more in the transverse antero-posterior than longitudinal proximo-distal orientation. Poorly defined or shallow palmar creases Fig. This is a completely subjective term, requiring an experienced observer to distinguish this finding from common variation in creases. It refers to an overall diminution of the creases, not to diminution of a subset of the creases.
Excessively deep creases of the palm Fig. Like the term Decreased palmar creases , this assessment requires an experienced observer to distinguish this from common crease variation. One view is that deep creases are those in which lint could still get stuck, even if the palm is fully opened. The distal and proximal transverse palmar creases are merged into a single transverse palmar crease Fig. The subtypes of single transverse palmar crease are not recognized here [ Hook et al.
See Palmar creases, decreased. Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot Fig. As described for a number of other terms, there are no thresholds or guides for the clinician to assess this finding. Instead, the clinician must rely on experience. Extension of the proximal transverse crease five finger crease to the ulnar edge of the palm Fig. The proximal transverse five finger crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side.
In this finding, the crease extends completely to the ulnar margin of the palm. A digit with two nails, with at least some soft tissue between them Fig. Note that this patient also has a Broad toe, T1 and Cutaneous syndactyly, partial, T See the Preaxial polydactyly definition for a related point on bifid nails. If the patient has a partially duplicated digit with two completely separate nails, this term should not be used.
Note that this image also shows Tapered fingers, left, F23 , and Broad fingertip, left, F4. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave.
The specific characteristic should be described. A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature Fig. This patient also has a Broad toe, left, T1 and Cutaneous syndactyly, partial, left, T This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature.
The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately. No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. Decreased width of nail Fig. Standards for newborns were identified [ Seaborg and Bodurtha, ] but none were identified for older persons.
Therefore, for newborns, this could be objective, but this is rarely measured. Small typically about 1 mm or less in size depressions on the dorsal nail surface Fig. Longitudinal, linear prominences in the nail plate Fig. There may be only one, or several ridges. Decreased length of nail Fig. Note that this patient also has Bifid nail, F5 left hand; Broad finger, F5, left hand ; and Short finger, left hand, F1. Use this designation when the length is reduced but the width is normal. A nail that is diminished in length and width Fig.
Nails, small, left foot. This is a bundled term but is retained because of its common usage. This term may be used when the width and length are reduced, although it may be preferable to code the patient as having both Short nail and Narrow nail. A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature Fig. Nail, split, T1, left foot.
Note that this image also shows a Broad toe, T1, left foot and Cutaneous syndactyly, partial, T23, left foot. This is distinct from Fused nail , where the two parts of the nail have a separate radius of curvature. Nail that appears thick when viewed on end Fig. Nails, thick, right hand, F Note that this image also shows Hyperconvex nails. No objective standard for nail thickness could be identified although an unsupported claim suggests that nails are 0.
There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Nail that appears thin when viewed on end Fig. Nails, thin, F2,5, right hand. This image also shows Concave nail, F2, left hand. No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0. Thin nails are usually brittle, may easily fray, or break at the free edge.
Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this.
Biesecker, John Carey, and Raoul C. This review and editing was necessary to increase the consistency of formatting and content among the six manuscripts [Allanson et al. While the authors of the papers are responsible for the original definitions and drafting of the papers, final responsibility for the content of each paper is shared by the authors and the four co-Chairs. Images were provided by several of the authors, Raoul C. Hennekam, Helen Hughes, and Julia Fekecs. National Center for Biotechnology Information , U. Am J Med Genet A.
Author manuscript; available in PMC Nov Biesecker , 1 Jon M. Karen Temple , 5 and Helga Toriello 6. This article has been corrected. See other articles in PMC that cite the published article. Abstract An international group of clinicians working in the field of Dysmorphology has initiated the re- definition of all terms used to describe the external human phenotype. The proximo-distal axis of the digits is specified according to the name of the underlying bones e.
In the case of polydactyly, if one can determine the origin of the duplicated digit e. If the origin of the supernumerary hand digit cannot be clearly ascertained, the digits are labeled F1, F2… recognize that the latter scheme leads to issues comparing pre- and postoperative digit identifiers.
The distal segment of the digit overlying the distal phalanx of the finger and including the nail, and dorsal and ventral surfaces. Descriptions should specify bilateral vs.
We do not specify terms for findings of asymmetry. Instead, we endorse the approach of defining a body part as small or large, which is less ambiguous and reduces the number of terms that must be defined. The axes of the limb are specified as per embryological terminology. There are some definitions where one term applies only to the feet and a similar second term applies to the hands.
Dowed of New York City. Historically, a U-type cleft hand was also known as atypical cleft hand. The classification in which typical and atypical cleft hand are described was mostly used for clinical aspects and is shown in table 1. Ectrodactyly is not only a genetic characteristic in humans, but can also occur in frogs and toads,  mice,  salamanders,  cows,  chickens,  rabbits,  marmosets,  cats and dogs,  and even West Indian manatees. In all three examples we see how rare the actual occurrence of ectrodactyly is. The Department of Biological Sciences at the University of Alberta in Edmonton, Alberta performed a study to estimate deformity levels in Wood Frogs in areas of relatively low disturbance.
In a study performed by the Department of Forestry and Natural Resources at Purdue University, approximately salamanders adults and larvae were captured from a large wetland complex and evaluated for malformations. Davis and Barry tested allele frequencies in domestic cats. Among the cats observed, there were males and females. Only one cat was recorded to have the ectrodactyly abnormality,  illustrating this rare disease. Ferreira, a case of ectrodactyly was found in a two-month-old male mixed Terrier dog.
From Wikipedia, the free encyclopedia. This article is about the congenital disorder. For the neurological syndrome, see split hand syndrome. Plastic and Reconstructive Surgery. In Green, David P. Green's Operative Hand Surgery 5th ed. The Journal of Hand Surgery.
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Journal of Medical Genetics. DNA Sequence and Biology". American Society for Surgery of the Hand. An Experimental Study in Rats". A common mechanism of disruption leads to divergent phenotypes". Classification, incidence and treatment: The Journal of Bone and Joint Surgery. Constitutional Disorders of the Skeleton in Dogs and Cats: Textbook of Small Animal Orthopedics. International Veterinary Information Service. Cleidocranial dysostosis Sprengel's deformity Wallis—Zieff—Goldblatt syndrome. Madelung's deformity Clinodactyly Oligodactyly Polydactyly. Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation.
Acheiropodia Ectromelia Phocomelia Amelia Hemimelia. Arthrogryposis Larsen syndrome Rapadilino syndrome. Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose. Pectus excavatum Pectus carinatum. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge , which helps direct early limb development, may also be involved in this disorder.
Poland syndrome usually diagnosed at birth based upon the physical characteristics. Imaging techniques such as a CT scan may reveal the extent to which the muscles are affected. The complete or partial absence of the pectoralis muscle is the malformation that defines Poland syndrome. It can be treated by inserting a custom implant designed by CAD computer aided design. This treatment is purely cosmetic and does not make up for the patient's imbalanced upper body strength. The Poland syndrome malformations being morphological, correction by custom implant is a first-line treatment.
Poland Syndrome can be associated with bones, subcutaneous and mammary atrophy: The surgery takes place under general anaesthesia and lasts less than 1 hour. The surgeon prepares the locus to the size of the implant after performing a 8-cm axillary incision and inserts the implant beneath the skin. The closure is made in two planes.
The implant will replace the pectoralis major muscle, thus enabling the thorax to be symmetrical and, in women, the breast as well. Lipomodelling is progressively used in the correction of breast and chest wall deformities. In Poland syndrome, this technique appears to be a major advance that will probably revolutionize the treatment of severe cases.
This is mainly due to its ability to achieve previously unachievable quality of reconstruction with minimal scarring. According to the National Human Genome Research Institute , Poland syndrome affects males three times as often as females and affects the right side of the body twice as often as the left. He noticed that three of his patients had both a hand deformity and an underdeveloped breast on the same side. He discussed this with his colleague at Guy's Hospital, Dr Philip Evans, who agreed that the syndrome was "not widely appreciated". Clarkson found a reference to a similar deformity published by Alfred Poland , over a hundred years earlier in Guy's Hospital reports, in Poland had dissected a convict known as George Elt, who was said to be unable to draw his hand across his chest.