Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Don’t fight Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism 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: 1200
Definition
Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).
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 Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism 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!
