Synonyms: SOFT syndrome
A rare genetic primary bone dysplasia disorder characterized by severe pre- and post-natal short stature facial dysmorphism (incl.dolicocephaly long triangular face tall forehead down-slanting palpebral fissures prominent nose long philtrum small ears) early-onset or postpubertal sparse short hair and hypoplastic fingernails. Small hands with tapering fingers bracydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated.
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 2026
Newly diagnosed with
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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.