It may be an isolated anomaly or associated with chromosomal or genetic disorders (eg, trisomy 21,13,18, Silver syndrome, Prader-Willi syndrome, or focal dermal hypoplasia). (neonatologybook.com)
Recessive EVC and EVC2 mutations cause Ellis-van Creveld syndrome characterized by ED, dwarfism, polydactyly and heart defects, however, dominant mutations in the same genes cause the less severe Weyers acrofacial dysostosis. (blueprintgenetics.com)
Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. (bvsalud.org)
One instance of large aplasia cutis congenita associated with exposed neurological structures showed surgical success with an acellular dermal matrix/skin graft construct to promote soft and bony tissue regeneration. (medscape.com)
Areas1
The second is focal and striate PPK, which consists of localized areas of hyperkeratosis located primarily on pressure points and sites of recurrent friction. (medscape.com)
The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. (nih.gov)
Existen varias formas, incluidas la displasia anhidrótica e hidrótica, HIPOPLASIA DÉRMICA FOCAL, y aplasia congénita del cutis. (bvsalud.org)
Syndactyly2
Digital deformities, such as syndactyly, ectrodactyly or polydactyly are frequently seen. (geneskin.org)
Curvature of the spine (scoliosis), fused vertebrae, underdeveloped or missing fingers or toes, Extra fingers or toes (polydactyly), fingers or toes that have grown together (syndactyly), fingers that bend to the side (clinodactyly), permanently bent fingers (camptodactyly), and/or fusion of bones of the fingers and toes may be present. (skincarehealthcenter.com)
Dwarfism1
Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (nih.gov)
Disorder4
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. (nih.gov)
Most cases of Focal dermal hypoplasia in females result from new genetic changes in the PORCN gene and occur in people with no history of the disorder in their family. (nih.gov)
Focal Dermal hypoplasia (FDH) is a rare X-linked dominant ecto-mesodermal disorder. (geneskin.org)
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. (nih.gov)
Development of depressed linear streaks (red, brown, white or pink) due to dermal atrophy (focal lack of dermis) is a classical feature, often occurring along Blaschko's lines. (geneskin.org)
Hypoplasia of the labia minora as well as vulvar papillomas have been observed females. (geneskin.org)
Diagnosis1
Histopathologic features usually show dermal hypoplasia or fat herniation, although an absence of those features does not exclude the diagnosis. (geneskin.org)
PURPOSE: DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mTOR pathway and is commonly implicated in sporadic and familial focal epilepsies, both non-lesional and in association with focal cortical dysplasia. (bvsalud.org)