Table 2.

Chondrodysplasia Punctata 1, X-Linked: Frequency of Select Features

FeatureProportion of Persons w/Feature 1Comment
Chondrodysplasia punctata (CDP)45/46 2CDP typically not visible on radiographs after age 3 yrs
Nasomaxillary hypoplasia42/42
Brachytelephalangy33/35
Short stature (height <5th %ile)12/16Postnatal onset
Significant respiratory abnormalities17/23Frequent respiratory infections, asthma, central apnea, tachypnea, neonatal respiratory distress, mechanical ventilation, tracheotomy, chronic nasal obstruction, nasal stents
Mixed conductive & sensorineural hearing loss13/18
Significant cervical spine abnormalities10/16Dysplasia or hypoplasia of cervical vertebrae, C1–C2 anterior subluxation, kyphosis, cervical cord compression, spinal canal stenosis
Delayed cognitive development5/6
1.

From Nino et al [2008], Matos-Miranda et al [2013]. Note: These studies may have an ascertainment bias towards more severely affected children.

2.

A child with brachytelephalangy, nasomaxillary hypoplasia, and tracheobronchial calcifications did not have CDP at age 14 months [Casarin et al 2009].

From: Chondrodysplasia Punctata 1, X-Linked

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