Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism almond-shaped palpebral fissures nasal deformity with creased ridge depressed or absent tip and asymmetry and partial absence of nasal bones and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly transverse limb agenesis and anomalies of the hands and feet such as camptodactyly oligodactyly clinodactyly and syndactyly) frontonasal encephalocele choanal atresia congenital renal/cardiac malformations and corpus callosum agenesis.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome?
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