Crane-Heise syndrome
Don’t fight Crane-Heise syndrome alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with Crane-Heise syndrome and get the support you need.
Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1512
Definition
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.
Epidemiology
Nine cases have been reported in the literature so far.
Clinical description
Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant.
Etiology
It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait.
Antenatal diagnosis
Antenatal diagnosis is possible by ultrasonographic monitoring for cerebral and vertebral malformations.
Prognosis
Prognosis is poor; the syndrome is almost always lethal soon after birth.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Connect with other users with Crane-Heise syndrome on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
