Trichorhinophalangeal syndrome type 1
A rare multiple congenital anomalies syndrome characterized by short stature sparse and depigmented scalp hair typical facial characteristics (broad eyebrows especially the medial portion broad nasal ridge and tip underdeveloped nasal alae long philtrum thin upper lip vermilion and protruding ears) and limb anomalies (brachydactyly short metacarpals and metatarsals cone-shaped phalangeal epiphyses dystrophic nails and hip dysplasia).
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
Trichorhinophalangeal syndrome type 1?
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
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
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
For a list of clinical trials in this disease area, please click here.