Conradi-Hünermann
X-linked dominant disorder characterized by congenital hemidysplasia with ichthyosiform erythroderma and limb defects affecting multiple organ systems.
What Is Conradi-Hünermann?
Conradi-Hünermann Syndrome is a rare genetic disorder characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. Conradi-Hünermann syndrome is classified as a form of chondrodysplasia punctata, a group of disorders characterized by the formation of small, hardened spots of calcium on the “growing portion” or heads of the long bones (stippled epiphyses) or inside other areas of cartilage in the body.
As more information for our “Patient Perspective” section of Conradi-Hünermann Syndrome becomes available, we will provide updates. Please refer to a Clinician’s Perspective for Conradi-Hünermann Syndrome.
Longterm Course
Erythroderma and generalized scaling at birth resolves within several months; whorled, follicular scale often progressively improves
Key Findings
The descriptive name of the disease identifies the key findings. Poor development of many organs is a constant feature and usually occurs on same side of the body as the ichthyosiform erythroderma.
- Skin
Follicular depressions with mild scale or increased pigmentation in a linear or whorled patterne - Hair
Various hair shaft abnormalities and pattered hair loss (common)
Associated Findings
- Skeletal
Asymptomatic bone densities on x-ray that resolve with time; limb shortening, extra digits and hip dysplasia (common) - Eyes
Early cataracts (common)
Clinical Resources
- Clinicians seeking to confirm a diagnosis should visit the Edvyce portal to submit a case to experts in ichthyosis.
- Learn more about FIRST’s Resources for individuals and families affected by Ichthyosis?
- Information about current clinical trials and research studies can be found here.
Types of Ichthyosis
- Congenital Ichthyosiform Erythroderma (CIE)
- Lamellar Ichthyosis
- Collodion Baby
- Darier Disease
- Epidermal Nevus
- Epidermolytic Ichthyosis
- Erythrokeratodermia Variabilis
- Erythrokeratodermia Cardiomyopathy Syndrome
- Harlequin Ichthyosis
- Ichthyosis Vulgaris
- Ichthyosis with Confetti
- Keratitis-Ichthyosis-Deafness (KID)
- Netherton Syndrome
- Pachyonychia Congenita
- Palmoplantar Keratodermas
- Sjögren-Larsson Syndrome
- X-Linked Ichthyosis
- Chanarin Dorfman Syndrome
- CHILD Syndrome
- Conradi-Hünermann
- Ichthyosis Hystrix with Deafness (HID) Syndrome
- Ichthyosis Hystrix Curth-Macklin
- Refsum Disease
- Trichothiodystrophy
Phenotype Names
Conradi-Hünermann, chondrodysplasia punctata with ichthyosis; Happle syndrome
EDD Name
EBP-sEDD
OMIM
Inheritance
X-linked dominant
Incidence
Rare; lethal in males
Diagnostic Tests
Aanalysis of cellular DNA
Age of First Appearance
Birth
Abnormal Genes
sterol isomerase
Primary Symptom Photos
