Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Name: |
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
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Description: |
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.
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ORPHAcode: |
306542
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Synonyms: |
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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