Cyprus facial-neuromusculoskeletal syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened ridged triangular skin fold extending from the glabella to the anterior fontanel bilateral elevation of the medial portion of the eyebrows hypertelorism low-set ears posteriorly rotated ears and widow’s peak) variable skeletal deformities and neuromuscular and sensory defects which can be incapacitating in some individuals. Reported features include limb muscle wasting congenital kyphoscoliosis hip dislocation congenital talipes equinovarus arthrogryposis joint stiffness/ankyloses ptosis and cataracts. Intelligence is normal. There have been no further reports since 1992.
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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