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Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC)

EEC syndrome, there are three different forms of EEC: EEC type 1, 2 and 3.  Only one family has been identified with EEC 1 and 2.  The most common type is EEC 3.

Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs, including ectrodactyly, a condition in which part or all of the central digits (fingers or toes) are missing. Ectrodactyly often affects the middle fingers or toes, but can present differently in different people (or be absent altogether). A groove or gap in the upper lip (cleft lip) and a groove or gap in the roof of the mouth (cleft palate) may also occur. The ectodermal dysplasia component refers to abnormalities to structures that arise from the outermost layer of the embryo (ectoderm). In EEC syndrome, this generally affects the hair, teeth, nails, skin and sweat glands. Individuals with EEC syndrome can also develop a variety of additional symptoms, including abnormalities of the genitourinary system and the eyes. Intelligence does not seem to be affected. Most cases of EEC syndrome are caused by mutations of the TP63 gene and are either new (spontaneous) mutations or are inherited as autosomal dominant disorders.

Prevalence ectrodactyly:

1 in 20,000 births.

Ultrasound diagnosis:

Spectrum of hand and foot defects with missing digits, median cleft and fusion of the remaining digits resulting in clawlike extremities.

Associated abnormalities:

Chromosomal abnormalities: Found in trisomy 18.

High incidence of genetic syndromes, the most common are:

Roberts syndrome:

Autosomal recessive; ectrodactyly, phocomelia, facial cleft.

Ectrodactyly – ectodermal dysplasia (EEC):

Autosomal dominant; deferomities of all four extremities, but more severe in the hands, and ectodermal defects (dry skin, sparse hair, dental defects and defects of the tear ducts).

Nager syndrome:

Autosomal dominant but in most cases de novo mutations; ectrodactyly, micrognathia, external ear anomalies.

Split hand and foot malformation:

Ectrodactyly presenting as ‘lobster claw’ anomaly.


Is a rare genetic condition characterized by:

Congenital absence of some fingers and/or toes (ectrodactyly)
Cleft lip and/or palate
Flat nasal tip


Missing teeth (hypodontia)
Pointed teeth
Small teeth


Lightly pigmented skin
Fair skin
Thickening of outermost layer of the epidermis (hyperkeratosis)


Lightly-pigmented, sparse, thick or thin, unruly hair
Sparse pubic hair
Sparse axillary hair (underarm)
Sparse eyebrows
Sparse eyelashes


Pitted nails (ice pick-like depressions in the nails)
Abnormally formed (dystrophic)


Abnormal development of tear glands, tear ducts, and meibomian glands. This may lead to excessive tearing and/or extremely dry eyes. This may cause inflammation of the eyelids, cornea, and conjunctiva
Abnormal function of stem cells for the cornea. This may lead to corneal erosions and conjunctival overgrowth of the cornea.
Intolerance to light (photophobia)


Conductive hearing loss
Small ears
Malformed auricles (outer visible part of the ear)


Diminished sweating (hypohidrosis)
Distension and dilation of the renal pelvis
Internal structures of one or both kidneys do not develop normally
Missing one or both kidneys
Ureter and bladder problems


Reported as normal, but there are some cases with reported intellectual disability


The treatment of ectrodactyly is usually invasive and can differ each time because of the heterogeneity of the condition. The function of a cleft hand is mostly not restricted, yet improving the function is one of the goals when the thumb or first webspace is absent.

Surgical treatment is based on several indications:

– Improving function.
– Absent thumb.
– Deforming syndactyly (mostly between digits of unequal length, like index and thumb).
– Transverse bones (this will progress the deformity; growth of these bones will widen the cleft).
– Narrowed first webspace.
– The feet.
– Aesthetical aspects.

Reducing deformity

Timing of surgical interventions

The timing of surgical interventions is debatable. Parents have to decide about their child in a very vulnerable time of their parenthood. Indications for early treatment are progressive deformities, such as syndactyly between index and thumb or transverse bones between the digital rays. Other surgical interventions are less urgent and can wait for 1 or 2 years.

Classification and treatment

When surgery is indicated, the choice of treatment is based on the classification. Techniques described by Ueba, Miura and Komada and the procedure of Snow-Littler are guidelines; since clinical and anatomical presentation within the types differ, the actual treatment is based on the individual abnormality.


The goal of this procedure is to create a wide first web space and to minimise the cleft in the hand. The index digit will be transferred to the ulnar side of the cleft. Simultaneously, a correction of index malrotation and deviation is performed. To minimise the cleft, it is necessary to fix together the metacarpals which used to border the cleft. Through repositioning flaps, the wound can be closed.


Ueba described a less complicated surgery. Transverse flaps are used to resurface the palm, the dorsal side of the transposed digit and the ulnar part of the first web space. A tendon graft is used to connect the common extensor tendons of the border digits of the cleft to prevent digital separation during extension. The closure is simpler, but has cosmetic disadvantage because of the switch between palmar and dorsal skin.

Miura and Komada

The release of the first webspace has the same principle as the Snow-Littler procedure. The difference is the closure of the first webspace; this is done by simple closure or closure with Z-plasties.

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