Conradi disease in Infant/Neonate
Fewer than 100 cases have been reported worldwide. It is presumed lethal in males (although it is rare that males are reported with the syndrome), but affected females have a normal intelligence and life span.
Characteristic skin changes are present at birth and evolve as the child ages. Hair and nail changes occur, but the teeth remain normal. Skeletal anomalies include short stature, shortening of the rhizomelic limbs, epiphyseal stippling, and craniofacial defects.
Eye abnormalities include unilateral sectorial cataracts at birth or soon after, and sometime microphthalmia or microcornea. Occasional problems are congenital heart defects, sensorineural deafness, central nervous system malformations, or renal malformations.
Variable features include rounded or asymmetrical facies with frontal bossing, a broad and flat nasal bridge, shortened limbs, kyphoscoliosis, supernumerary digits, and other skeletal defects. Recurrent flexural skin infections may be problematic.
Q77.3 – Chondrodysplasia punctata
398958000 – Chondrodysplasia punctata, X-linked dominant type
- CHILD syndrome – Erythroderma is usually unilateral.
- Ichthyosis linearis circumflexa (Netherton syndrome) – Double-edged scale, trichorrhexis invaginata, absence of atrophoderma.
- Congenital ichthyosiform erythroderma has generalized skin changes.
- Incontinentia pigmenti – Atrophic changes do not evolve with age.