Marfanoid habitus-inguinal hernia-advanced bone age syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Marfanoid habitus-inguinal hernia-advanced bone age syndrome

A rare developmental defect with connective tissue involvement disorder characterized by tall stature inguinal hernia facial dysmorphism (including a long triangular face prominent forehead telecanthus downslanting palpebral fissures bilateral ptosis everted lower eyelids large ears long nose full everted vermilions narrow and high arched palate dental crowding) and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints long digits mild muscle weakness myopia and foot deformities (i.e. hallux valgus talipes equinovarus).

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 March 2024

Newly diagnosed with
Marfanoid habitus-inguinal hernia-advanced bone age 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

Clinical Trials

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