Congenital limbs-face contractures-hypotonia-developmental delay syndrome

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Congenital limbs-face contractures-hypotonia-developmental delay syndrome

Synonyms: CLIFAHDD syndrome

A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face hypotonia neonatal respiratory distress and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures broad nasal bridge large nares long philtrum and deep nasolabial folds among others. Limb deformities (camptodactyly clubfoot) short neck scoliosis as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.

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: // Data version October 2023.

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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

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