KLHL7-related Crisponi/cold-induced sweating-like syndrome
Synonyms: KLHL7-related Crisponi-like syndrome
A rare genetic multiple congenital anomalies syndrome characterized by several of the typical clinical features of Crisponi Syndrome/cold-induced sweating syndrome such as hyperthermia in the first months of life dysmorphism feeding and respiratory difficulties contraction of oropharyngeal muscles joint contractures with camptodactyly and early onset retinitis pigmentosa but lacking cold-induced sweating. In contrast to Crisponi and cold-induced sweating syndromes intellectual disability is reported.
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
KLHL7-related Crisponi/cold-induced sweating-like 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
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.