bone fragility with contractures, arterial rupture, and deafness
breast fibrocystic disease +
breast neoplasm +
central nervous system malformation +
cleft palate +
congenital anomaly of kidney and urinary tract +
congenital limb malformation +
cutaneous mycosis +
cutis laxa +
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
cutis laxa - Marfanoid syndrome
cysts and fistulae of the face and oral cavity +
Desbuquois dysplasia +
developmental anomaly of metabolic origin +
developmental defect of the eye +
digestive tract malformation +
disorder of pilosebaceous unit +
disorder of sexual differentiation +
Ehlers-Danlos syndrome +
facial cleft +
familial atypical multiple mole melanoma syndrome
familial tumoral calcinosis +
focal dermal hypoplasia
frontonasal dysplasia with alopecia and genital anomaly
hemihyperplasia-multiple lipomatosis syndrome
hereditary hemorrhagic telangiectasia +
hereditary neurocutaneous angioma
hydrops fetalis +
ichthyosis prematurity syndrome
infectious embryofetopathy +
integumentary system benign neoplasm +
integumentary system cancer +
joint laxity, short stature, and myopia
keratinization disease +
keratoderma hereditarium mutilans
Larsen syndrome
Legius syndrome
lethal Larsen-like syndrome
linear nevus sebaceous syndrome
macroglossia +
Maffucci syndrome
mandibulofacial dysostosis with alopecia
marfanoid habitus-inguinal hernia-advanced bone age syndrome