Cryptorchidism-arachnodactyly-intellectual disability syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Van Benthem-Driessen-Hanveld syndrome

Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare multiple congenital anomalies syndrome characterized by psychomotor delay severe intellectual deficit severe muscle hypoplasia (with absence of subcutaneous fatty tissue) generalized contractures craniofacial dysmorphic features (dolichocephaly esotropia ears of unequal size high palate) chest and spinal deformities (i.e. sternum shifted to side kyphoscoliosis) pulmonary anomalies (unilateral hypoplastic bronchial system) arachnodactyly and genital abnormalities (cryptorchidism hypospadias testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.

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 May 2024

Newly diagnosed with
Cryptorchidism-arachnodactyly-intellectual disability 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

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.