Conradi-Hunermann syndrome
Synonyms
3
Overview
Conradi–Hunermann syndrome ( Conradi–Hunermann–Happle syndrome , Happle syndrome, and X-linked dominant chondrodysplasia punctata ) is a type of chondrodysplasia punctata. It is associated with the gene EBP (gene) and affects between one in 100,000 and one in 200,000 babies.
Symptoms
Possible symptoms include
- Growth deficiency
- Low nasal bridge
- Flat face
- Down-slanting space between eyelids
- Cataracts
- Asymmetric limb shortness
- Joint shortening or spasms
- Frequent scoliosis
- Frequent kyphosis
- Abnormal redness of the skin
- Thick scales on infant skin
- Large skin pores
- Flaky Skin
- Sparse hair
- Coarse hair
- Bald spots/ Alopecia
- Ichthyosis
Diagnosis
signs and symptoms of Conradi-Hunermann syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Conradi-Hunermann syndrome symptoms.
Treatment
Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated with medicine or surgery. Most female patients with the syndrome can live a long and normal life, while males have only survived in rare cases.