Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
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 2024
Newly diagnosed with
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
Clinical Trials
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