Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
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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
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Hypertelorism |
| Bilateral choanal atresia |
| Short palpebral fissure |
30%-79% of people have these symptoms.
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| Prominent nasal bridge |
| Abnormal oral cavity morphology |
| Optic nerve coloboma |
| Abnormal cardiac septum morphology |
5%-29% of people have these symptoms.
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| Type II diabetes mellitus |
| Bladder exstrophy |
| Fetal akinesia sequence |
| Short stature |
| Ophthalmoparesis |
| Abnormal palate morphology |
| Abnormality of vision |
| Short nose |
| Wide nasal bridge |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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