Catalog

Pyknoachondrogenesis

No MMS code

Link to WHO Definition

Pyknoachondrogenesis – http://id.who.int/icd/entity/588435239

Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterised by severe generalised osteosclerosis with extreme shortening of the limbs and hydrops fetalis prenatally, or a large head, palpebral oedema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism at birth.