Cyprus facial-neuromusculoskeletal syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version May 2024

Newly diagnosed with
Cyprus facial-neuromusculoskeletal syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

Clinical Trials

For a list of clinical trials in this disease area, please click here.