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Pyknoachondrogenesis
Disease definition
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.
ORPHA:3003
Classification level: DisorderSummary
Epidemiology
The disease is very rare and only five cases (four males and one female) have been reported in the literature so far.
Clinical description
Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognized at birth. The main clinical manifestations include a large head, palpebral edema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism.
Etiology
Etiology remains unknown. Familial occurrence of affected sibs of both sexes points to an autosomal recessive pattern of inheritance but parental consanguinity has not been reported.
Diagnostic methods
Diagnosis is based on clinical findings and typical radiographic features. X-rays show marked sclerosis of the facial bones and extremities, and poor ossification elsewhere.
Differential diagnosis
Achondrogenesis (see this term) is the main differential diagnosis.
Antenatal diagnosis
Prenatal diagnosis of pyknoachondrogenesis may be made by ultrasound.
Prognosis
Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period.
A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008)
Additional information