Congenital Hand Anomalies and Associated

Syndromes
Ghazi M. Rayan • Joseph Upton III

Congenital Hand Anomalies

and Associated Syndromes
Editors
Ghazi M. Rayan Joseph Upton III
INTEGRIS Baptist Medical Center Chestnut Hill, USA
Orthopaedic Surgery – Hand
Oklahoma City, USA

ISBN 978-3-642-54609-9    ISBN 978-3-642-54610-5 (eBook)
DOI 10.1007/978-3-642-54610-5

Library of Congress Control Number: 2014946208

Springer
© Springer-Verlag Berlin Heidelberg 2014
This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the mate-
rial is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting,
reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval,
electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter devel-
oped. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or
material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive
use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provi-
sions of the Copyright Law of the Publisher´s location, in its current version, and permission for use must always
be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance
Center. Violations are liable to prosecution under the respective Copyright Law.

The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does
not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective
laws and regulations and therefore free for general use.

Product liability: The publishers can not guarantee the accuracy of any information about dosage and application
contained in this book. In every individual case the user must check such information by consulting the relevant
literature.

Printed on acid-free paper

Springer is part of Springer Science+Business Media

www.springer.com
Preface I

I first became interested in syndromic hand anomalies in 1980 when I was a hand surgery fel-
low at the Raymond Curtis Hand Center in Baltimore. A patient was brought to the US from
Afghanistan with a case of Klippel-Trenaunay-Webber syndrome. The patient had grotesque
overgrowth of her hands and upper extremities with her fingertips reaching her knees while
standing. My mentor Dr. Raymond Curtis consulted Dr. Victor McKusick, a geneticist from
John Hopkins Hospital in Baltimore, who graciously came to Memorial hospital to examine
the patient and gave us a fascinating impromptu lecture on the syndrome. When my career in
hand surgery was launched in Oklahoma City I was fortunate to treat a prodigious number of
children with congenital hand differences and various syndromes. Whenever I encountered
a mysterious syndromic hand The Genetics of Hand Malformations book by Timtamy and
McKusick came to the rescue.
I initially thought of and began preparing this book more than 12 years ago. In March 2000
I contacted Dr. McKusick to inquire whether he was planning to update his book and to gauge
his interest in providing guidance or collaboration with me on a new publication on syndromic
hand anomalies. He informed me that he had no plans to update his book and urged me to
proceed with publishing my book and offered to give me advice along the way. In 2008 Dr.
McKusik passed away and I felt that I owed it to him to complete this project. Hence in that
year I began writing this book. I approached Dr. Joseph Upton in 2011 asking him whether he
would like to collaborate on the book, offering both his expertise and extensive photo library
of many of the syndromes, and fortunately he agreed immediately because the book’s subject
is also of special interest to him.
Acquiring an awareness of the most common congenital hand and upper extremity anomalies
and the numerous syndromes that may be associated with them is a daunting task for the physi-
cian and other health professionals. To the surgeon who manages upper extremity problems,
syndromes are viewed as an abstruse subject and the eponyms associated with them are most
intimidating. The pediatricians and geneticists who care for children with syndromic conditions
are usually unfamiliar with the intricacies of hand anomalies, the terminologies associated with
them, and the various classifications of congenital hand and upper extremity conditions from a
surgeon’s perspective. Physicians embarked on training programs of many medical and surgi-
cal specialties are required to be familiar with syndromic upper extremity disorders and often
encounter related questions in their in-training and specialty board examinations.
The purpose of this publication is to describe the most common congenital hand and upper
limb anomalies and the relevant syndromes encountered with each of these anomalies in a clini-
cal practice. Awareness of these associations is important for improving care of the syndromic
child. This book is designed to be a reference for practicing physicians, therapists, residents,
and fellows of different specialties including but not limited to genetics, pediatrics, internal
medicine, and surgical disciplines such as hand, orthopedic, and plastic surgery. It can be a
helpful guide for medical students as well.
This publication is organized into seven anatomical categories including; tumors/dissemi-
nated, elbow, forearm/wrist, hand, thumb, digits, and skin. Within each of these main categories
the most frequently encountered congenital hand and upper extremity differences are described.

v
vi Preface I

For each of the hand anomalies the book describes the most common associated syndromes.
The result is 37 congenital hand and upper extremity differences and more than 127 syndromes
which are discussed in a systematic and easy-to-follow format.
The information presented herein is derived from numerous sources including: articles in the
literature, the Online Mendelian Inheritance of Man (OMIM) database, the landmark textbook
The Genetics of Hand Malformations (1978) by Temtamy and McKusick, and the book Smith’s
Recognizable Patterns of Human Malformations (2005) by Jones.
There is no current, concise reference for syndromic hand and upper extremity conditions.
Temtamy and McKusick’s work was published over 30 years ago and, although unique at the
time and still a classic today, some of its material is no longer current. New knowledge has
evolved about congenital hand and upper extremity anomalies and numerous new syndromes
have been described in the interim. We intend for this book to fill that gap and become a refer-
ence for practitioners, teachers, and learners who seek to understand and recognize patients
with syndromic congenital hand conditions.

Ghazi Rayan MD
Preface II

The study of congenital differences of the upper limb is a dynamic field in transition. No two
hands are enantiomorphic and there are so many variations within each particular group or
subgroup of anomalies that it is difficult to make much sense from what we know about each.
Molecular analysis is providing insight into the mechanisms of malformation without much
clinical relevance to date.
In no other field of medicine and surgery are there so many classification systems. Each week
or month new syndromes are being described, most of which are labeled with nondescriptive
eponyms that may be defined by the particular bias of the treating physician. For example, a
child with the Poland syndrome means a chest wall deformity and no pectoralis muscle to the
pediatric or thoracic surgeon, a symbrachydactyly to the hand surgeon, and a breast a/hypoplasia
to the plastic surgeon. In an academic setting some use syndrome recognition to exercise their
intellectual prowess during rounds or in conferences. However, the identification of a particular
syndrome and all associated anomalies is of critical importance to the physicians, consultants,
and families involved with these children. This field is always changing and like medical spe-
cialty board examinations where the questions from one year to the next are usually the same,
only the answers change.
My interest in hand surgery was kindled when I browsed through an impressive red book
written by H. Kelikian, who had devoted his entire career to the description and treatment of
congenital limb anomalies. As a first year medical student I didn’t know that hand surgery ex-
isted as a specialty and stood in complete awe of these complex problems. Radial club hands
or cleft hands seemed to be experiments in Nature beyond explanation let alone treatment. After
almost four decades as a pediatric hand surgeon my book shelf contains most if not all that has
been written on the subject; the most battered textbooks in need of more duck tape are (left to
right) Congenital Deformities of the Hand and Forearm by H. Kelikian, The Genetics of Hand
Malformations by Samia Temtamy and Victor McKusick, The Growing Hand by Amit Gupta,
Simon Kay, and Luis Scheker, The Hand in Radiologic Diagnosis: With Gamuts and Pattern
Profiles by Andrew Poznanski, Smith’s Recognizable Patterns of Human Malformation by
Kenneth Jones, Congenital Malformations of the Hand and Forearm by Buck-Gramcko, and
Plastic Surgery, four editions with the latest Volume 8 edited by Steve Mathes and Rod Hentz,
and finally Vascular Anomalies by John Mulliken, Pat Burrows, and Steve Fishman. These
books had become the major references for me in the treatment of syndromic children seen on
an almost daily basis. I was delighted when Dr. Rayan asked me to contribute to this textbook.
When asked if I had seen many of the 100 syndromes with hand anomalies, my answer was
“Yes, just about all of them.” Fortunately, I had taken pictures of most.

vii
viii Preface II

Compiled by two practicing hand surgeons this book is intended as a reference for those
studying or treating these children. The recognition and evaluation of the many syndromes
and associations containing upper limb anomalies is the primary purpose. It presents the most
common syndromes involving the hand with particular reference to the accepted classification
systems, anatomy, and variations seen within the upper limb. It is not intended to be a treatise
on treatment but is intended to bring together much of the information for the student, teacher,
and practicing physician trusted to the care of these special children.
Most of these children require multidisciplinary care from a team of specialists, who
with the exception of the pediatrician and/or geneticist have their clinical blinders focused upon
their own specific area of expertise. The surgeon often has the unique privilege to follow these
children through their growth and development. These young patients belong to the surgeon
until either he/she retires or the patient relocates. They are yours for life. It is important to treat
them as a general doctor and not just a specialist; to recognize their potential problems at critical
ages; refer them to appropriate care when necessary; to follow their growth through maturity;
and to offer reconstructions with the best possible outcome. Advice from the knowledgeable
pediatrician, internist, surgeon, therapist, and others involved in their care can make a tremen-
dous difference with these children with congenital differences and will often be pivotal for
their families. It is not uncommon for these patients and their families to seek advice from the
pediatrician or surgeon who has followed them from birth to answer questions outside their
comfort zone. For example, the knowledge that malignant endocrine tumors are very common
with the Proteus syndrome may be critical for yearly surveillance long after their hand recon-
struction has been completed. This book should provide a valuable reference.

Joseph Upton III MD

Introduction

Hand anatomy is unmatched in its complexity when compared to any other organ in the human
body. The hand possesses intricate mechanics, refined engineering, extravagant architecture, and
sophisticated geometry. The human hand embodies beauty, elegance, grace, and splendor. It is a
tool of communication that expresses our thoughts and feelings. The hand is an eye for the blind,
an ear for the deaf, and an articulating mouthpiece for the speech impaired. We use the hand to
embrace and protect, to text and type, to feel and think. Human civilization is the gift of our hands.
Embryonic hand development is a complex and captivating process that culminates in the
formation of the esthetic and functional organ that is considered to be an extension of our brain.
The normal course of embryonic limb development can be affected by environmental or genetic
factors. Structural, chemical, and traumatic insults can alter the natural course of limb develop-
ment leading to the various congenital hand anomalies. Genetic mutations will program the
limb to develop abnormally and these may be associated with various syndromes. Congenital
anomalies will disturb hand anatomy and mechanics and influence the hand’s ability to function
and interact with the environment. Congenital hand differences can critically impact a child’s
lifestyle at home, school, and in the community. Patients with congenital hand anomalies often
have syndromes that are associated with musculoskeletal and systemic abnormalities. Recog-
nizing these syndromes is crucial in offering the family genetic counseling and providing the
patient with the necessary treatment.

Definitions of Terms

In his book The Cannon of Medicine Ibn Sina (Avicenna, 980–1037), was the first to pioneer
the idea of a syndrome in the diagnosis of specific diseases. The term syndrome is derived from
the Greek sun = along or together and dromos = amongst others or course. Hence the term
sundromē means concurrence of symptoms.
The term syndrome has a few definitions. In one definition syndrome is considered as a group
of symptoms, signs, laboratory findings, and physiologic disturbances that are linked by a com-
mon anatomical, biochemical, or pathologic history. It can be also described as a combination
of structural defects that occur together and are causally related. Another definition is a certain
pattern and number of anomalies or findings that are running together. Lastly, a syndrome is
considered as an expression of a single allele or pair of alleles through a fortuitous collection
of signs and symptoms.
The term sequence refers to a distinction between anomalies, which are intrinsic to develop-
ing tissue (primordium) and those, which are extrinsic to the developing tissue. For example,
the malformations seen in the Klippel-Feil condition are the result of a deficiency in early
neural tube development which results in a sequence or cascade of secondary deformities such
as cervical fusions, torticollis, Sprengel’s deformity, radial dysplasia, and the like. Amniotic
constriction band, plagiocephaly, and the Poland sequence are examples of other conditions
caused by extrinsic disruptions and not a genetic predisposition. In these situations much less
importance is placed upon broad surveillance of the family pedigree and family planning.

ix
x Introduction

An association is a nonrandom propensity for certain malformations to occur more often

than would be expected by chance without being an element of a syndrome.
The terms dysplasia, dysostosis, dysmorphism, and disease are sometimes used in the lit-
erature in exchange for syndrome. Dysplasia means abnormal development of tissues, organs,
or cells. The term dysostosis means defective ossification. Dysmorphism is an abnormality in
morphologic development.
An eponym is usually a person after which a particular disease or syndrome is named.
Eponymous diseases or syndromes are usually named after the physicians who described them
for the first time or who offered clarification and new information about the condition that was
not offered before. In rare instances these syndromes may be named after disease features,
presumed cause, or in reference to geography or even a patient.
The number of syndromes related to the upper extremity is difficult to estimate. When the
term syndrome is entered into Pubmed 866449 citations were listed. When the term congenital
syndrome is entered into Pubmed 44120 citations are listed. When the term congenital hand
syndrome is entered into Pubmed 3092 citations are listed.
For this publication we compiled the list of the most common congenital upper extremity
anomalies by reviewing the literature. Excluded from this list are congenital upper extremity
malformations that are not genetically predisposed or not syndromic in nature such as congeni-
tal trigger thumb.

Organization of this Book

The congenital upper limb anomalies in this book are grouped into seven anatomical categories:
disseminated/tumors, elbow, forearm/wrist, hand, thumb, digits, and skin. For each congenital
hand anomaly, a list of any possible associated syndromes is tabulated. In addition, the most
frequently associated syndromes are described in detail.
For consistency each syndrome is described and organized under 12 headings including the
title along with references:
Title: This describes the most commonly used eponym or term for the syndrome.
AKA: Which is an acronym for also known as and includes a list of other names, terms, or
eponyms that are often used in the literature for the particular syndrome.
Hallmarks: This depicts the most salient or common features of the particular syndrome.
Background: This heading illustrates the origin of the eponym, a history of the syndrome,
and its prevalence.
Etiology: This demonstrates the type of inheritance and the genetic cause of the syndrome.
Presentation: Included under this heading is relevant information about the clinical presen-
tation, age of onset, nature of symptoms, radiographic manifestations, pathophysiology, and
prognosis.
General musculoskeletal: The findings related to general musculoskeletal issues are included
here.
Upper extremity: This describes findings in the upper extremity from the hand to the shoulder
girdle.
Lower extremity: Any lower extremity findings are included from foot to pelvis.
Spine: Under this heading abnormalities related to cervical, thoracic, lumbar, and the sacral
spine are discussed.
Craniofacial: Any anomalies related to head, neck, face, eyes, nose, or ears are discussed here.
Systemic: Findings grouped under this heading are those related to neurologic, respiratory, and
cardiovascular systems, as well as abdominal and pelvic organs.
References: Finally, the most pertinent references are listed at the end of each described syn-
drome.
Classification of Hand Differences xi

Lastly included under Hallmarks suggested acronyms for several syndromes that can be a used
as mnemonic devices for memorizing the most salient features of these syndromes.

Classification of Hand Differences

Attempts to establish a universal classification for congenital hand anomalies have been dif-
ficult because of (1) the lack of uniform terminology, (2) some anomalies can be atypical
meaning they are difficult to fit into a certain category, and (3) some can be pigeon-holed
into more than one category. An ideal classification system should utilize simple descriptive
terms common to all, while at the same time allowing full categorization of complex cases.
While being specific, it should not be too detailed and burdensome. Surgeons, geneticists,
pediatricians, and embryologists should use the same terminology in order to obtain accurate
incidence rates, enhance communication, and establish international comparisons of congenital
hand anomalies.
The first classification for congenital hand anomalies was probably in 1832 by St. Hilaire.
[1] Several other classifications have been proposed since that time. In the mid 20th century
the National Research Council adopted the Frantz and O’Rahilly [2] classification, which was
based on skeletal appearance. Temtamy and McKusick [3] in 1969 classified hand malforma-
tions into seven groups based on anatomic and genetic characteristics and divided each group
into two categories, those isolated and those associated with other anomalies. The seven groups
include: (1) Absence deformities, (2) Brachydactyly, (3) Syndactyly, (4) Polydactyly, (5) Con-
tracture deformities, (6) Symphalangism, and (7) Anomalies with ring constrictions. None of
these classifications became universally accepted.
The American Society for Surgery of the Hand and the International Federation of Societies
for Surgery of the Hand adopted a classification system that was proposed by Swanson, Barsky,
and Entin [4] in 1968. This system albeit not perfect is the most consummate and currently the
most widely used by surgeons and encompasses seven categories. The adoption of this classi-
fication system by the hand surgery community has enhanced our ability to communicate more
clearly about the various anomalies and improved our understanding of their epidemiology.
This classification encompasses seven categories as follows:

I Failure of formation
II Failure of differentiation
III Duplication
IV Undergrowth
V Overgrowth
VI Constriction band
VII General skeletal anomalies

According to Giele et al. [5] the prevalence of the seven categories in order of frequency is
as follows: Failure of differentiation (35 %), Duplication (33 %), Failure of formation (15 %),
Undergrowth (10 %), Generalized skeletal abnormalities (3 %), Constriction band (3 %), Over-
growth  (1 %).
Although this is the most widely used classification system, it has some limitations. Many
anomalies fit into several categories while some are difficult to fit into any. When multiple
deformities are encountered it is difficult to decide which is the principal deformity and hence
classify it appropriately. Additionally, this classification has no established format for includ-
ing or excluding congenital hand anomalies associated with syndromic conditions. Flatt [5]
correctly pointed out in his book, “Classifications are only conveniences, and it is not possible
to precisely classify all hand malformations. The value of a classification is that it enables
xii Introduction

comparisons to be drawn and incidence rates to be established. The problem has always been to
develop a classification midway between one so general that it is valueless and one so detailed
that its use becomes impossible.”

References

1. St. Hillaire IG. Histoire Générale et Particuli; agere des Anomalies de l’Organisation chez l’Homme et les
Animaux. Paris: B Bailli; agere; 1832.
2. Frantz, CH, O’Rahilly R. Congenital skeletal limb deficiencies. J Bone Joint Surg. 1961;43 A:1202.
3. Temtamy S, McKusick V. A. Synopsis of hand malformations with particular emphasis on genetic factors.
Birth Defects. 1969;5:125–84.
4. Swanson AB, Barsky AJ, Entin MA. Classification of limb malformations on the basis of embryology failure.
Surg Clin North Am. 1968;48:1169.
5. Giele H, Giele C, Bower C, et al. The incidence and epidemiology of congenital upper limb anomalies: A
total population study. J Hand Surg (Am]) July 2001;26(4):628–34.
6. Flatt AE. The care of congenital hand anomalies. 2nd ed. St. Louis: Quality Medical Pub; 1994.

Epidemiology of Congenital Hand Anomalies

The prevalence rate of a particular disease is the number of cases in a defined population at
a specific point in time. One challenge facing investigators of children with congenital hand
anomalies is inconsistency in the method of obtaining and reporting their prevalence. It is dif-
ficult to ascertain the prevalence of different anomalies from various studies without incurring
some deviation from the “true” values of prevalence. This is because of the following fac-
tors: (1) There are a limited number of epidemiologic population-based studies which are the
most accurate reflection of prevalence information. While some authors restricted their data
to practice-based percentages or what Lamb called “clinic incidence”, others provided limited
population estimations. (2) Pooling data from different geographic locations and demographics
can lead to under or over reporting of certain congenital hand anomalies that may have much
higher prevalence in some populations compared to others. (3) Under reporting of “minor”
congenital hand anomalies as patients with these anomalies may not be referred to a hand
specialist and therefore are not included in practice-based percentages. (4) Until recently lack
of uniformity or grouping of congenital hand anomalies by a classification system has been
challenging in terms of reporting prevalence rates especially those associated with syndromes.
(5) The application of the terms “incidence” and “prevalence”, where their definitions are used
loosely and interchangeably.
Throughout the literature different methods of reporting prevalence values have been used to
express the frequency of congenital hand anomalies. For example, a prevalence value per 1,000
has been used [1] to estimate syndactyly with an estimation of 05/1,000; additionally a preva-
lence value per 2,500 has been used [2] reporting a syndactyly prevalence of 1/2500; and lastly
a prevalence value per 1,000,000 has been reported [3] for syndactyly of 12.4/1,000,000.
We propose uniform reporting in future epidemiologic studies of congenital hand anoma-
lies and syndromes using a standard prevalence rate value per 10,000. This should minimize
confusion and improve reporting of hand differences and recollection of their prevalence rates.
Birch-Jensen [4] in a cross-sectional study conducted in Denmark from 1943 to1947 found
that absence deformities (failure of formation) of the upper limb had a prevalence rate of 625
per 4 million patients. However, one of the main drawbacks of the study was that it did not
include polydactyly which is one of the most common upper extremity anomalies.
In 1982 Lamb [5] estimated the incidence of upper limb malformations to be approxi-
mately 11 per 10,000 live births. The most common congenital upper extremity malformations
were in order of frequency: syndactyly, polydactyly, and camptodactyly.
In 2001 Giele et al. [6] conducted a population study in Western Australia and found the
prevalence of upper limb anomalies to be 1 in 506, which is approximately 20 per 10,000. Forty-
Epidemiology of Congenital Hand Anomalies xiii

six percent of those affected had other nonhand congenital anomalies. Fifty-one percent had
bilateral hand anomalies, and 17 % had multiple different hand anomalies. The most common
anomalies in order of frequency were failures of differentiation (35 %), duplications (33 %),
and failures of formation (15 %). Congenital upper limb anomalies were more common in boys;
preterm, post-term, and multiple births; and older mothers.
In 2010 Ekblom et al. [7] carried out a population study in a region of Stockholm (Swe-
den) and found the incidence of upper limb congenital anomalies to be 21.5 per 10,000 live
births. Mostly boys were affected and had bilateral anomalies. Failure of differentiation
was the most common category (276 of 585) followed by duplication (155 of 585), failure
of formation (103 of 585), undergrowth (18 of 585), generalized abnormalities and syn-
dromes (14 of 585), overgrowth (10 of 585), and constriction ring syndrome (9 of 585).

References

1. Goldberg M, Bartoshesky L. Congenital hand anomaly: Etiology and associated malformations. Hand Clin-
ics 1 (3) 1985 405–15.
2. Eaton C, Lister G. Syndactyly. Hand Clinics 6 (4) 1990 555–75
3. Rebelo N, Duarte R, Costa MJ, et al. Acrocephalosyndactyly – the coalesced hand. Eur J Pediatr Surg. 2002
Feb;12(1):49–55.
4. Birch-Jensen A. Congenital deformities of the upper extremities [Thesis]. The cooperative printing house in
Odense and the Danish population house; 1949.
5. Lamb DW, Wynne-Davies R, Solo L. An estimate of the population frequency of congenital malformations
of the upper limb. J Hand Surg [Am]. 1982; 7: 557–62.
6. Giele H, Giele C, Bower C, et al. The incidence and epidemiology of congenital upper limb anomalies: A
total population study. J Hand Surg [Am]. July 2001; 26(4): 628–34.
7. Ekblom A, Laurell T, Arner M. Epidemiology of Congenital Upper Limb Anomalies in 562 Children Born
in 1997 to 2007: A Total Population Study from Stockholm, Sweden. Journal of Hand Surgery; ▶ 35, 11,
1742–1754, 2010
Table of Contents

I Tumors/Disseminated . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1

1 Enchondromas . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3

2 Osteochondromas . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11

3 Neurofibromas . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19

4 Vascular Malformations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 29

5 Congenital Joint Contractures . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 59

6 Congenital Joint Laxity/Instability . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 81

II Elbow . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 93

7 Radial Head Dislocation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 95

8 Elbow Synostosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 105

III Forearm/Wrist . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 119

9 Radial Deficiency . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 121

10 Ulnar Deficiency . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 149

11 Phocomelia (Segmental Deficiency) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 165

12 Amelia/Hemimelia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 173

13 Mesomelia/Rhizomelia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 185

14 Madelung Deformity . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 191

15 Ulnar Dimelia (Mirror Hand) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 197

16 Carpal Synostosis (Coalition) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 205

xv
xvi Table of Contents

IV Hand . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 213

17 Overgrowth (Macrodactyly) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 215

18 Cleft Hand and Central Deficiencies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 247

19 Congenital Ulnar Drift (Windblown Hand) . . . . . . . . . . . . . . . . . . . . . . . . . . . 263

20 Brachymetacarpia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 279

21 Metacarpal Synostoses . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 291

22 Phalangeal Synostosis (Symphalangism) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 297

V Thumb . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 303

23 Thumb Hypoplasia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 305

24 Triphalangeal Thumb . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 325

25 Radial (Preaxial) Polydactyly . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 335

26 Congenital Clasped Thumb . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 343

VI Digits . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 349

27 Clinodactyly . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 351

28 Syndactyly . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 367

29 Brachydactyly . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 395

30 Ulnar (Postaxial) Polydactyly . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 407

31 Five-Fingered Hand . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 421

32 Congenital Middle Finger in Palm . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 427

33 Symbrachydactyly (Atypical Cleft Hand) . . . . . . . . . . . . . . . . . . . . . . . . . . . . 439

34 Camptodactyly . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 451

35 Arachnodactyly . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 461

36 Congenital Nail Dysplasia (Onychodysplasia) . . . . . . . . . . . . . . . . . . . . . . . . . 469

Table of Contents xvii

VII Skin . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 475

37 Congenital Skin Dysplasia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 477

Glossary Of Terms . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 491

Subject Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 493

List of Hand Conditions

1. Multiple enchondromas 19. Congenital ulnar drift (Windblown hand)

2. Multiple osteochondromas 20. Brachymetacarpia
3. Multiple neurofibromas 21. Metacarpal synostosis
4. Vascular malformations 22. Phalangeal synostosis
5. Congenital joint contracture 23. Thumb hypoplasia
6. Congenital joint laxity/instability 24. Triphalangeal thumb
7. Radial head dislocation 25. Radial (preaxial) polydactyly
8. Elbow synostosis 26. Congenital clasped thumb
9. Radial deficiency 27. Clinodactyly
10. Ulnar deficiency 28. Syndactyly
11. Phocomelia (segmental deficiency) 29. Brachydactyly
12. Amelia/hemimelia (transverse deficiency, 30. Ulnar (postaxial) polydactyly
congenital amputation) 31. Five-fingered hand
13. Mesomelia/Rhizomelia 32. Congenital middle finger in palm
14. Madelung deformity 33. Symbrachydactyly
15. Ulnar dimelia (mirror hand) 34. Camptodactyly
16. Carpal synostosis 35. Arachnodactyly
17. Overgrowth (Macrodactyly) 36. Congenital nail dysplasia
18. Cleft hand 37. Congenital skin dysplasia

xix
List of Hand Syndromes
1. Ollier disease
2. Maffucci syndrome
3. Ehrenfried’s disease
4. Langer-Giedion syndrome (tricho-
rhino-phalangeal)
5. Trevor disease (Dysplasia epiphysealis
hemimelica)
6. Von Recklinghausen disease (Neurofi-
bromatosis, Type I)
7. Noonan syndrome
8. Klippel-Trenaunay-Webber syndrome
9. Blue rubber bleb nevus syndrome
10. CLOVES syndrome
11. Bockenheimer syndrome
12. Glomuvenous malformation syndrome
13. PTEN
14. PHOST
15. Parkes-Weber syndrome
16. Arthrogryposis Multiplex Congenita
17. Distal arthrogryposis syndrome, Type I
18. Beals syndrome (Contractural arachno-
dactyly)
19. Hurler syndrome
20. Pseudo-Hurler syndrome
21. Schwartz-Jampel syndrome
22. Ehlers-Danlos syndrome
23. Osteogenesis imperfecta syndrome,
Type I
24. Down syndrome
25. LEOPARD syndrome
26. Klippel-Feil syndrome
27. Seckel syndrome
28. Larsen syndrome
29. Antley-Bixler syndrome
30. Pfeiffer syndrome
31. FAS (fetal alcohol syndrome)
32. TAR (thrombocytopenia absent radius)
syndrome
33. VACTERL association
34. Nager syndrome
35. Goldenhar syndrome
36. Duane syndrome
37. Hemifacial microsomia radial defect
syndrome
38. Baller-Gerold syndrome
39. Cornelia de Lange syndrome
40. Femur-fibula-ulna syndrome
41. Ulnar-mammary syndrome
42. Gene-Wiedemann syndrome
43. Roberts syndrome
44. Al-Awadi/Raas-Rothschild syndrome
(Schinzel phocomelia)
45. Adam-Oliver syndrome
46. Grebe syndrome
47. Hanhart syndrome
48. Oromandibular-limb hypogenesis spec-
trum
49. Achondroplasia
50. Robinow syndrome
51. Mesomelia synostosis syndrome
52. Rhizomelia chondrodysplasia punctata
53. Langer mesomelic dysplasia
54. Léri-Weill syndrome (dyschondroste-
osis)
55. Laurin-Sandrow syndrome
56. Muenke syndrome
57. Nievergelt syndrome
58. Hemihypertrophy syndrome
59. Proteus syndrome
60. McCune-Albright syndrome
61. Lipomatous microdactyly syndrome
62. Soto syndrome
63. EEC (ectrodactyly-ectodermal dyspla-
sia cleft palate) syndrome
64. Goltz-Gorlin syndrome
65. Prader-Willi syndrome
66. Digito-talar dysmorphism
67. Escobar (Multiple pterygium) syn-
drome
68. Waardenburg syndrome
69. Albright pseudohypoparathyroidism
syndrome
xxi
xxii
70. Turner syndrome
71. Gorlin-Goltz (Nevoid basal cell carci-
noma) syndrome
72. Maroteaux-Malamut syndrome
73. Multiple synostosis syndrome
74. Cushing symphalangism syndrome
75. Diastrophic dysplasia
76. Juberg-Howard syndrome
77. Rubenstein-Taybi syndrome
78. Holt-Oram syndrome
79. Fanconi Pancytopenia
80. Hand-Foot-Uterus syndrome
81. Aase syndrome (Diamond-Blackfan
anemia)
82. Townes-Brocks syndrome
83. Levy-Hollister syndrome
84. Werner syndrome
85. MASA syndrome
86. Stuve-Wiedemann syndrome
87. Silver-Russell syndrome
88. Pierre-Rubin (Catel-Manzke) syn-
drome
89. Duplication 3q syndrome
90. Peter-Plus syndrome
91. Epidermal nevus syndrome
92. Apert syndrome
93. 2q31.1 microdeletion syndrome
94. Oculodentodigital syndrome
95. Synpolydactyly 1 syndrome
96. Synpolydactyly 2 syndrome
97. Popliteal pterygium syndrome
98. Fraser syndrome
List of Hand Syndromes
99. Saether-Chotzen syndrome
100. Oral-Facial-Digital syndrome, Type I
101. Aarskog syndrome
102. Du Pan syndrome
103. Feingold syndrome
104. Pallister-Hall syndrome
105. Ellis-van Creveld syndrome
106. Bardet-Biedl syndrome
107. Mohr syndrome
108. McKusick-Kaufman syndrome
109. Acrocallosal syndrome
110. Tibial hypoplasia – Polydactyly syn-
drome
111. Freeman-Sheldon syndrome
112. Oto-palato-digital syndrome, Type II
113. Poland syndrome
114. Mobius syndrome
115. Hecht syndrome
116. Trisomy 8 syndrome
117. Marfan syndrome
118. Shprintzen-Goldberg syndrome
119. Loeys-Dietz syndrome
120. Marden-Walker syndrome
121. Nail-patella syndrome
122. DOOR syndrome (deafness osteo ony-
chodystrophy)
123. Zinsser-Engman-Cole syndrome
124. Epidermis Bullosa
125. KID syndrome
126. Amniotic constriction band
127. Stiff skin syndrome
About the Authors

Ghazi Rayan MD

Dr. Ghazi M. Rayan is Clinical Professor in Orthopedic Surgery and Adjunct Professor of
Anatomy in the Cell Biology Department at the University of Oklahoma. He has also been Di-
rector of the Oklahoma Hand Surgery Fellowship Program for almost 25 years and is Chair of
the Division of Hand Surgery at the INTEGRIS Baptist Medical Center, Oklahoma City. He has
appeared in the Consumers’ Research Council of America’s Guide to America’s Top Surgeons
in each year since 2002 and has also appeared in Castle Connolly Medical Ltd.’s America’s
Top Doctors. He is a member of the editorial board for the Journal of Hand Surgery and is a
consultant reviewer for a number of peer-reviewed journals. Dr. Rayan has written more than
170 journal articles and 30 book chapters and has been the editor of 7 books.

Joseph Upton III MD

Dr. Upton received his BA from Yale University and his medical degree from Baylor College of
Medicine in Houston, Texas in 1970. He completed his surgical residency at Yale-New Haven
Hospital in New Haven, Connecticut in 1972, and was an orthopedic surgeon in the US Army
stationed at the Eisenhower Medical Center in Augusta, Georgia in 1974. He completed his
Plastic and Reconstructive Surgery residency at St. Joseph Hospital in Houston, Texas in 1976
and a Fellowship in Hand Surgery at the Roosevelt Hospital in New York, New York in 1977.
Dr. Upton’s practice is one of the world’s largest specializing in congenital hand deformities,
vascular anomalies, and pediatric and adult microsurgery. He is on staff at many local hospitals
including Children’s Hospital Boston, Beth Israel Deaconess Medical Center, and Shriners
Hospital for Children.
Dr. Upton is Clinical Professor of Surgery at Harvard Medical School and Director of the
Hand Fellowship Program at Beth Israel Deaconess Medical Center. Among many other works,
he is the co-author of the Thumb and Digit Reconstruction, has edited 3 books in hand surgery,
has over 300 publications in journals and textbooks, and has a permanent exhibit at the Boston
Museum of Science.

xxiii