Total 66 clinical symptoms reported for Pyknodysostosis
Brachydactyly |
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Synonyms:Brachydactyly syndrome; Short fingers or toes |
Very frequent |
Decreased serum insulin-like growth factor 1 |
A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.
|
Very frequent |
Delayed pneumatization of the mastoid process |
An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.
Synonyms:Mastoid processes poorly pneumatized |
Very frequent |
Disproportionate short-limb short stature |
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Synonyms:Brachymelic dwarfism; Disproportionate short limb dwarfism; Dwarfism, short-limbed; Micromelic dwarfism; Short limb dwarfism, disproportionate; Short stature, disproportionate short limb; Short stature, disproportionate short-limb; Short-limb dwarfism; Short-limbed dwarfism |
Very frequent |
Frontal bossing |
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Synonyms:Frontal protruberance; Skull bossing |
Very frequent |
Increased bone mineral density |
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Synonyms:Increased bone density; Increased bone mineral density; Osteosclerosis; Osteosclerosis of bones |
Very frequent |
Obtuse angle of mandible |
Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.
Synonyms:High mandibular plane angle; Steep mandibular plane angle |
Very frequent |
Osteolytic defects of the distal phalanges of the hand |
Synonyms:Acro-osteolysis of distal phalanges; Acroosteolysis of distal phalanges; Osteolytic defects of the outermost finger bone of the hand |
Very frequent |
Persistent open anterior fontanelle |
The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.
Synonyms:Front fontanelle stays open; Persistent, open anterior fontanel |
Very frequent |