Create issue ticket

41 Possible Causes for Hypoplastic or Absent Toenails

  • Adams-Oliver Syndrome 5

    Affected individuals may also have webbing of toes (syndactyly) and underdeveloped (hypoplastic) toenails.[rarediseases.org] In severe cases, the fingers, toes, hands, feet, and/or lower legs may be partially or completely absent.[rarediseases.org]

  • Hirschsprung Disease Type D-Brachydactyly Syndrome

    Showing of 8 80%-99% of people have these symptoms Aganglionic megacolon Enlarged colon lacking nerve cells 0002251 Aplastic/hypoplastic toenail Absent/small toenails Absent[rarediseases.info.nih.gov] […] underdeveloped toenails [ more ] 0010624 30%-79% of people have these symptoms Brachydactyly Short fingers or toes 0001156 Hypoplastic fingernail Small fingernail Underdeveloped[rarediseases.info.nih.gov]

  • Autosomal Recessive Deafness 44

    In addition, in some affected infants, some of the fingernails and/or toenails may be absent.[rarediseases.org] Such abnormalities may include misshapen, discolored, underdeveloped (hypoplastic), and/or rudimentary nails.[rarediseases.org] Infants with DOOR syndrome also typically have characteristic abnormalities of the structure, texture, and color of the fingernails and toenails.[rarediseases.org]

  • Autosomal Recessive Deafness 24

    In addition, in some affected infants, some of the fingernails and/or toenails may be absent.[rarediseases.org] Such abnormalities may include misshapen, discolored, underdeveloped (hypoplastic), and/or rudimentary nails.[rarediseases.org] Infants with DOOR syndrome also typically have characteristic abnormalities of the structure, texture, and color of the fingernails and toenails.[rarediseases.org]

  • Coffin-Lowry Syndrome

    Coffin-Siris syndrome [CSS OMIM #135900] is characterized by developmental delay, coarse facial features, speech impairment, hypertrichosis, hypoplastic or absent fifth fingernails[dnatesting.uchicago.edu] […] or toenails, and agenesis of the corpus callosum.[dnatesting.uchicago.edu]

  • Nail-Patella Syndrome

    Abstract Nail-patella syndrome is an autosomal-dominant hereditary disease named for dysplastic fingernails and toenails and hypoplastic or absent kneecaps evident in patients[ncbi.nlm.nih.gov] Other syndromes to consider with nail changes include DOOR syndrome (Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation), Trisomy 8 mosaicism (absent or hypoplastic[clinicaladvisor.com] Specifically, one or both patellas are either absent, abnormally small, hypoplastic, or shaped incorrectly.[symptoma.com]

  • Adactyly of Foot

    Adams oliver syndrome is a combination of limb malformations which include syndactyly, brachydactyly, polydactyly, oligodactyly and hypoplastic finger/toenails [ 5 ].[research-journal.net] Deficiency varies from absent long phalanges to absent individual finger, to monodactyly or even the absence of all digits.[research-journal.net]

  • Brachydactyly of Fingers

    In the feet, there were hypoplastic great toenails and absent nails on s... more Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia[scinapse.io] In the hands, the first and fifth digits had absent nails and bulbous swelling of the distal phalanx. The second, third, and fourth digits were relatively spared.[scinapse.io]

  • Qazi-Markouizos Syndrome

    Discussion Coffin-Siris syndrome is a rare genetic disorder with mental retardation and absent or hypoplastic fifth fingernails and/or toenails.[link.springer.com]

  • BOD Syndrome

    Other syndromes to consider with nail changes include DOOR syndrome (Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation), Trisomy 8 mosaicism (absent or hypoplastic[dermatologyadvisor.com] All affected children have some form of mental retardation or developmental delay, and incompletely formed (hypoplastic) or absent fifth fingernails and tips of the fifth[encyclopedia.com] […] fifth fingernails and toenails, shortened fifth fingers and toes, hypotonia, joint laxity, mental retardation, craniofacial abnormalities with coarse facial features, can[dermatologyadvisor.com]

Further symptoms