Synonyms: Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
A rare genetic syndromic intellectual disability disorder characterized by non-progressive congenital marked central hypotonia severe psychomotor delay and intellectual disability chronic constipation distended abdomen abnormal dermatoglyphics delayed and dysharmonic skeletal maturation and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate prominent nasal root long philtrum and open mouth with drooling as well as variably present cryptorchidism hypertelorism and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be assoicated. There have been no further descriptions in the literature since 1994.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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Team Titin, Inc.'s mission is to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Neuromuscular Disease Foundation
The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure.
Association Aux Pas du Coeur
Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
For a list of clinical trials in this disease area, please click here.