An Unusual Pollicization Procedure

Radial polydactlyly (extra thumb) is a relatively common problem for those of us who treat kids with birth differences/ anomalies of the upper extremity.  Please see the following link for previous posts on the topic LINK.  Sometimes these can be treated by a “straightforward” procedure with excision of the extra thumb and stabilization of the primary […]

Early Action in Madelungs Deformity

Years ago, I met an 7 year young lady who came to my office with no complaints.  Mom brought her even though she had no hand or wrist pain and no functional limitations.  The reason for the visit was a strong family history of Madelungs deformity (mom and sister).  There was no clinical evidence of […]

Syndactyly as part of a syndrome

Syndactyly is most commonly an isolated finding which we believe is “simply” related to a failure of the cells to regress during development.  This failure to regress means that the webspace does not develop ~ the 7th-8th week of gestation.  We know that the apical ectodermal ridge is involved and signaling mechanisms including FGF-8.  This […]

Ulnar cleft hand, part II

My most recent post, from Dec 5th, was on a rare type of cleft hand, the ulnar cleft hand.  Ulnar cleft hand is very different and even less common that the classic cleft hand which involves the central hand (classically with middle finger absence).  There have been a few manuscripts on the topic of ulnar […]

Nerve Injury after Trauma

The blog is mostly about kids born with differences in the arms (and occasionally legs).  However, my practice also includes kids with sports injuries and other traumas.  I will occasionally post interesting findings on these topics as well.  This is a child with a nerve that is not working correctly after an elbow fracture.  Specifically, […]

Madelungs Deformity Surgical Technique

I have posted a few times on Madelung Deformity, as may be seen HERE.  While there have been a number of surgical techniques recommended over the years, I believe that the dome osteotomy of the distal radius is the best option.  That procedure was described well in this important MANUSCRIPT. Below is a brief surgical technique video […]

Madelungs Deformity- not always a problem

Madelungs Deformity is a common condition in my practice although uncommon in general.  I have previously blogged about it a few times- you can read those posts HERE.  In general, I see patients in my office with Madelungs who have symptoms including pain with activities, limited motion, and wrist deformity.  Most commonly, we see patients in […]

Three thumbs

Radial polydactyly (duplicated thumb) is an uncommon condition in the general population- I have blogged about kids with extra thumbs a number of times.  Those posts can be found HERE.  Extra thumbs come in a wide variety of patterns, some of which are captured in the Flatt Classification (previously called the Wassel Classification) as shown in […]

Macrodactyly, Syndactyly, and Keloid

Macrodactyly is very rare, even at centers such as ours that evaluate and treat many kids with birth anomalies of the upper extremity.  Macrodactyly is a difficult condition to research as there is so much variability in presentation- fingers may be dramatically large, moderately large, or only slightly larger than the expected finger size.   Treatment […]

The 5 Finger Hand

The 5 Finger Hand is a rare congenital hand difference which I have written about in this blog once before, HERE..  It is, as it sounds, the presence of 5 fingers, all in the same plane, instead of 4 fingers and a shorter (2 phalanx), palmarly placed thumb.   The challenges of the 5 Finger Hand […]

Cleidocranial Dysplasia

Cleidocranial dysplasia is a rare birth condition most notable for the lack of collarbones (or small collarbones- clavicles).  While this is recognizable, other findings include abnormalities of the teeth as well as delaying closing of the fontanelles (skull bone deficits).  This is an autosomal dominant condition related to the RUNX2 gene but importantly, it is […]

Phocomelia

Phocomelia is defined as ‘seal limb’- a birth anomaly (i.e., congenital malformation) in which the hands are essentially attached to the chest.  There may be a short bone connecting the hands to the chest, either a forearm bone or arm bone, but not both.  Phocomelia is incredibly rare and really became a recognized abnormality in […]

The Hand in Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia (MED) is an uncommon anomaly of the bone and cartilage at the ends of the bones (epiphyses) in the growing child.  There are 6 primary types of Multiple Epiphyseal Dysplasia. All are transmitted in an autosomal dominant fashion except type 4. EDM1 is caused by a heterozygous mutation in the gene encoding […]

Surgery for Macrodactyly

Macrodactyly is an uncommon birth condition of the upper extremity.  I have posted several previous times on macrodactyly: Macrodactyly PostMacrodactyly Post 2 Macrodactyly means ‘large finger’ and sometimes is referred to as local gigantism.  My other posts have discussed different facts about the diagnosis including why this may happen but here I would like to […]

Rebuilding the Mirror Hand

Mirror hand is an incredibly rare birth difference of the hand and upper extremity.  I have previously blogged about this diagnosis, specifically regarding how limbs form and how birth differences come to be- find the post HERE.  But I have not previously written about the reconstruction or rebuilding of the mirror hand.  And there is very […]

Finger Masses

I see a number of kids with growths on the fingers.  These growth vary tremendously in size and expectations but these are technically tumors. The good news is that almost all of these finger masses are benign- meaning that they don’t spread to other parts of the body.  They are still concerning to the family. […]

The Short 4th Metacarpal

We will, from time to time, evaluate a patient presenting with a painless shortening of the 4th (and sometimes 5th) metacarpal.  Often, the complaint is of an absent knuckle or a different- appearing hand.  Here is one such 14 year old patient.  The primary issue is the shortening of the ring finger metacarpal bone although […]

The Big Thumb

The term ‘superdigit’ is utilized in congenital hand surgery to describe a digit that is larger than we expect. It is often related to the fusion of two digits into one and may be seen in cleft hand and central polysyndactyly among other conditions.  We also see large digits in other conditions such as Macrodactyly.  […]

Nora Lesion

A Nora Lesion is also knows as a bizarre parosteal osteochondromatous proliferation.  This tumor is a bony outgrowth on the outside of the bone, typically found in the fingers and off of the phalangeal bones.  The sexes are affected equally.  There is an occasional history of trauma but this may not be truly relevant.   […]

Ulnar Sided Cleft Hand

I have previously posted on cleft hand with a number of discussions.  More to come on this topic in the future as well.  However, I wanted to share a less common type of cleft hand, the ulnar cleft hand. Dr Tonkin from Sydney Australia has written about this unusual condition in the Journal of Hand Surgery.  In this case […]

Small finger polydactyly, extra fingers

Extra fingers can be on the thumb side of the hand, the central part of the hand, or the small finger (pinky) side of the hand.  The location of the extra digit is important because it relates the risk of other conditions such as syndromes or other abnormalities.  Small finger polydactyly is the most common […]

Rare Syndromes: Duane Syndrome with Radial Ray Anomaly

Duane Syndrome is an rare birth anomaly of the eyes in which the patient can’t move the eye outward. It has been know to exist for more than 100 years.  But more recently it has been linked to a defect of the SALL4 gene and related to miswiring of the eye muscles or a missing […]

Bone/ cartilage tumors/ MHE (multiple hereditary exostoses)

Multiple hereditary exostoses (MHE) is a genetic condition in which a patient has many bone/ cartilage tumors.  It is also know as multiple hereditary osteochondromatosis.  These are “tumors”- unregulated growths- but these are not malignant tumors (since they don’t go anywhere- they don’t metastasize). This condition differs from a condition I have previously posted: isolated osteochondroma. […]

Macrodactyly- Big fingers

Large digits are also called macrodactyly.  This uncommon condition can be quite dramatic in appearance.  I have previously blogged on the topic of macrodactyly- here is the previous Post.  I want to share a few pictures from a single case as a way to demonstrate a typical progression. This child presented to us a 8 months […]

Severe Madelungs Deformity

I have posted several times on Madelungs Deformity but a recent follow- up visit with a happy patient led me to post again.  One previous post was on More typical Madelungs and one on Madelungs after trauma. Patients with an inherited Madelungs are much more common in my practice (compared to Madelungs following trauma) even though both are […]

Wrist Deviation

Radial deficiency and ulnar deficiency are, for most children, easily distinguished.  Radial deficiency, a condition about which I have blogged about on numerous occasions- see here – presents with a problem on the radial (thumb) side of the forearm and hand (mainly the thumb).  The radius bone can be absent or limited and the extensor muscles are […]

The Hand in Arthrogryposis

Hand function is clearly vital for function.  As I have written about previously, the thumb is key for both fine manipulation (think picking up a coin) and large object grasp (soda can).  The fingers are key for grasp and strength in grasp.  https://congenitalhand.wustl.edu/2013/11/5-finger-hand-follow-up.html Hand function in arthrogryposis can be a challenge.  First, in order to […]

5- finger hand, follow- up

I have previously posted on the topic of the 5- finger hand.   This previous post summarized many of the key issues with this diagnosis.  https://congenitalhand.wustl.edu/2013/03/the-5-finger-hand.html Here is the preoperative picture of one such child with a 5- finger hand.  Note the small extra thumb and the digits all aligned in the same plane. 5 […]

Madelungs Deformity

Madelungs Deformity is a malformation of the distal radius which creates a deformity of the wrist.  It typically presents in adolescent females and often is bilateral.  Madelungs may be painful and may limit motion of the forearm and wrist.  There is a known genetic pathway for patients with a SHOX gene abnormality.   There genetics […]

Camptodactyly, Unusual Cause

Camptodactyly is a flexion deformity of the finger, typically the small finger, and is typically caused by an imbalance between the flexors and extensors of the PIP joint.  There have been a number of specific causes identified including abnormal muscle insertion, a tight flexor digitorum superficialis tendon, and weak extensor tendons.  Most patients with camptodactyly […]

Congenital Clasped Thumb

Congenital clasped thumb describes a condition present at birth (but potentially not recognized until 3-4 months of age or even later) in which the thumb is flexed into the palm.  Congenital clasped thumb may affect one or both thumbs but more commonly affects both.  Most newborns keep the thumb positioned in the palm for the […]

Pseudarthrosis of the Forearm

Pseudoarthrosis or, more commonly, pseudarthrosis literally translates to “false joint.”  The term Pseudarthrosis is used commonly in the situation of a fracture nonunion.  For example, if the shinbone, the tibia, does not heal after a fracture, a nonunion develops.  Eventually the nonunion will develop into a pseudarthrosis– related to motion between the bone ends.  There is fluid […]

Family Challenges

I just read a very interesting article in Money Magazine, May 2013 issue.   It is called “Paying for Finn” and is written by Jeff Howe.  The article details the challenges in caring for a special needs child.  A child such as Finn on the autism spectrum brings different challenges than most children with birth […]

Trisomy 8

There are number of different varieties of chromosomal disorders in which there is an extra chromosome, leading to a total of 47 chromosomes instead of the typical 46 (23 pairs).  The most notable trisomy is Downs Syndrome, Trisomy 21.  The more common other trisomies include Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome).  Finally, […]

Great Update

Here is a nice update on our patient- Erickson- born with 3- arms.  Amazing story, more amazing kid.  Also, very interesting blog. https://tinysuperheroes.squarespace.com/blog/2013/3/11/super-erickson

L1 Syndrome and the Thumb

L1 Syndrome is a rare condition that primarily affects the nervous system including the brain but also the nerves to the arms and legs.  The name L1 syndromecomes from the name of the altered L1CAMgene.  Alterations in this gene affect the L1 protein which then affects nervous system development.  L1 Syndrome is passed to children […]

The 5- Finger Hand

The 5- finger hand is a rare anomaly in which there is no thumb, but rather 5 digits in the same plane (i.e., in a row) without a thumb.  That means each digit has three bones (whereas the thumb normally has two bones).  This is important because the normal thumb function is not present because […]

Clinodactyly

I have previously posted on clinodactyly but recently performed several surgeries so I though adding a few more pictures and thoughts might be helpful.  There are two types of clinodactyly: isolated and associated with a syndrome.  Isolated clinodactyly is common in the general population but is very well tolerated and usually ignored.  In fact, many […]

Unusual Combination

We have come a long way in understanding congenital hand and upper extremity abnormalities.  Dr Swanson, more than 40 years ago, published a classification system that was adopted by most of us who treat patients with birth anomalies.  This classification system was based purely on appearance of the extremity but allowed us to communicate better […]

Carpenter Syndrome

Carpenter Syndrome is one rare type of acrocephalopolysyndactyly, Type 2.  It is closely related to acrocephalosyndactyly, with the most notable type of this group of disorders being Apert syndrome.  These syndrome all have craniosynostosis (premature fusion of the suture lines of the skull) and syndactyly, with or without polydactyly as well.  Carpenter syndrome has been […]

Clavicle Pseudoarthrosis

Clavicle pseudoarthrosis (meaning fake joint) is a rare condition.  It occurs when the normal growth centers of the clavicle do not join (fuse) during development.  It is almost always right sided, a fact which is may be related to pressure from the subclavian artery.  Clavicle pseudoarthrosis is generally painless but it causes a large prominence […]

Hemihypertrophy

Hemihypertrophy is a difficult diagnosis due to its rarity and the variety of associated conditions.  Basically, the diagnosis means that one extremity (or one side of the body) is enlarged compared to the other side.  As little as a 5% difference can be diagnostic but usually families seek care when the difference is more notable. […]

Sprengel Deformity

Sprengel deformity is an uncommon condition in which the scapula (shoulder blade) on one side is higher in the neck than the other side.  Normally, during prenatal development, both scapula begin high in the neck and slowly descend toward their normal resting position in the upper back.  If, for unclear reasons, one scapula does not […]

Rubinstein- Taybi Syndrome

Rubinstein- Taybi syndrome is a rare disease related to a gene defect causing a protein abnormality.  Most cases are sporadic without other known affected family members.  One of the tell-tale signs of Rubinstein- Taybi syndrome is the presence of broad, deviated thumbs (clinodactyly).  Patients are typically short statured and may have slow motor and cognitive […]

Robinow Syndrome

Robinow syndrome is an exceedingly rare condition which may be transmitted as an autosomal dominant or recessive condition.   Patients are short stature with the forearm segments classically most notably short (mesomelia).  The fingers and toes are also short (brachydactyly) and may be curved as well (clinodactyly).   There are classically spinal malformations, craniofacial anomalies, […]