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GENATLAS PHENOTYPE

last update : 16-06-2021

Symbol	CLCDSF
Location	2p22.3
Name	cutis laxa and inguinal hernia, craniofacial dysmorphology, prominent skeletal features
Corresponding gene	LTBP1
Main clinical features	cutis laxa and inguinal hernia, craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly) facial asymmetry, coarse facial features, arched eyebrows, proptosis, downslanting palpebral fissures, long eyelashes, a prominent nose with convex nasal ridge, wide nasal bridge and broad nasal tip, sagging cheeks with prominent nasolabial folds
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	mental retardation
	neurology
	osteo-articular
Type	disease

Remark(s)

. homozygous premature truncating LTBP1 variants associated with LTBP1-related Cutis laxa syndrome (PMID: 33991472))