2. General information
• It is also called as Ellis van Creveld disease
• It is congenital and the patient present
evidence of chondrodysplasia, ectodermal
dysplasia, polydactylism and congenital
morbus Cordis
3. Clinical features
• Congenital heart defects may include
hypoplasia of aorta, atrial and ventricular
septal defects and a single atrium
• there is absence of nails and the hair tend to
be fine and sparse
• there may be deformity of the knees that
frequently progresses and causes a significant
malalignment
• there is bone dysplasia
4. Oral manifestations
• Teeth are deficient in number and those which
develop are small, rudimentary, conical, spaced
and irregular in position. The teeth are affected,
with eruption occurring at birth or shortly
thereafter
• The deciduous molars present a crenate occlusal
surface. Eruption is delayed
• the lip deformity often referred to as partial
harelip results from an abnormally short upper
lip, which may also be sunken secondary to
hyperplasia of maxilla
5. Radiographic features
• As mentioned previously, there are shorter
distal and middle phalangeal, in relation to the
proximal phalangeal segments
• deciduous molars show typical shape
