Brachioskeletogenital 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: 1299
Definition
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.
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.
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30%-79% of people have these symptoms.
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| Thoracolumbar kyphoscoliosis |
| Premature loss of teeth |
| Craniosynostosis |
| Downslanted palpebral fissures |
| Hypometric saccades |
| Short philtrum |
| Weight loss |
| Mixed hearing impairment |
| Thin vermilion border |
5%-29% of people have these symptoms.
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| Cerebral hemorrhage |
| Ureteral stenosis |
| Abnormality of the middle ear |
| Gaze-evoked horizontal nystagmus |
| Eyelid coloboma |
| Seizures |
1%-4% of people have these symptoms.
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An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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