Acromelic frontonasal dysostosis
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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: 1827
Definition
A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.
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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| Choroid plexus cyst |
| Gastrointestinal obstruction |
| Anteroposteriorly shortened larynx |
| Hypoplasia of the olfactory bulb |
| Median cleft lip |
| Ventriculomegaly |
5%-29% of people have these symptoms.
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1%-4% of people have these symptoms.
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| Central apnea |
| Dermoid cyst |
An unknown % of people have these symptoms.
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