5 articles
Acephaly
Acephaly (acephalia, congenital absence of head) is the complete congenital absence of the head, distinct from anencephaly. It occurs mainly in acardiac twins with TRAP sequence, is extremely rare in singletons, and is coded ICD-11 LA00.2.
Caudal duplication
Caudal duplication (caudal duplication syndrome, dipygus, split notochord syndrome) is a rare congenital anomaly duplicating cloaca- and notochord-derived structures: distal colon, genitourinary organs, and lower spine, with unknown prevalence and no established inheritance.
McKusick-Kaufman syndrome
McKusick-Kaufman syndrome (MKS, hydrometrocolpos syndrome), MKKS/BBS6-related autosomal recessive ciliopathy first described in the Amish: postaxial polydactyly, congenital heart disease, hydrometrocolpos; distinguished from Bardet-Biedl syndrome by absence of retinal, obesity, and developmental features.
Nasal glial heterotopia
Nasal glial heterotopia (nasal glioma) is a rare, nonhereditary congenital mass of ectopic neuroglial tissue in or near the nose, without CNS connection; extranasal 60%, intranasal 30%, mixed 10%; complete excision is curative.
Polysyndactyly-cardiac malformation syndrome
Polysyndactyly-cardiac malformation syndrome, or Bonneau syndrome (OMIM 263630), is an extremely rare autosomal recessive disorder combining polysyndactyly with complex congenital heart defects; usually fatal in utero or infancy, with about nine reported cases.