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 September 2024
Newly diagnosed with
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.