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Conradi disease - Skin
Other Resources UpToDate PubMed

Conradi disease - Skin

Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
Other Resources UpToDate PubMed

Synopsis

Conradi-Hunermann-Happle syndrome is a rare subtype of chondrodysplasia punctata, a heterogeneous group of skeletal dysplasias. It is caused by a defect in cholesterol synthesis due to a mutation of the emopamil-binding protein (EBP) gene, encoding EBP, and transmitted in a mosaic X-linked dominant fashion. It is characterized by short stature, craniofacial defects, sectorial cataracts, ichthyosis, coarse hair, and alopecia.

Less 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, 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.

Codes

ICD10CM:
Q77.3 – Chondrodysplasia punctata

SNOMEDCT:
398958000 – Chondrodysplasia punctata, X-linked dominant type

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Last Updated:05/12/2015
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Conradi disease - Skin
Conradi disease : Epiphyseal punctate calcifications, Erythroderma, Limb hypoplasia, Short stature, Scarring alopecia, Ichthyosis
Clinical image of Conradi disease
Diffuse thick scales and underlying erythema on the abdomen and leg.
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