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Start free with EleplanKLHL7-related Crisponi/cold-induced sweating-like syndrome
ORPHA:603694Disease
Also called KLHL7-related Crisponi-like syndrome
What it is
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.
Key facts
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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