Faciodigitogenital dysplasia
This disorder is characterized by multiple birth defects involving the face, fingers and genitalia. Features include wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum, and laxity of the ligaments resulting in bending back of the knees (genu recurvatum), flat feet, and overly extensible fingers. This condition is inherited. There are X-linked and autosomal (non-X-linked) forms of the disease. It is also called the Aarskog-Scott syndrome for DJ Aarskog (1928-) and CI Scott, Jr. (1934-), Norwegian and American pediatricians, respectively, who described it in 1970-71. The gene for the X-linked form of the disease has been mapped to chromosome band Xp11.21.

Medical dictionary. 2011.

Look at other dictionaries:

  • faciodigitogenital dysplasia — noun A rare genetic disorder causing defects in bones and cartilage, and characterised by abnormalities of the face, hands and genitals. Syn: Aarskog syndrome …   Wiktionary

  • Dysplasia — Abnormal in form. From the Greek dys (bad, disordered, abnormal) and plassein (to form). For example, retinal dysplasia is abnormal formation of the retina during embryonic development. * * * Abnormal tissue development. SEE ALSO: heteroplasia.… …   Medical dictionary

  • Dysplasia, faciodigitogenital — This disorder is characterized by multiple birth defects involving the face, fingers and genitalia. Features include wide spaced eyes (ocular hypertelorism), front facing (anteverted) nostrils, a broad upper lip, a malformed ( saddle bag )… …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Aarskog-Scott syndrome — This disorder is characterized by multiple birth defects including wide spaced eyes (ocular hypertelorism), front facing (anteverted) nostrils, a broad upper lip, a malformed ( saddle bag ) scrotum, and laxity of the ligaments resulting in… …   Medical dictionary

  • Syndrome, Aarskog-Scott — This disorder is characterized by multiple birth defects including wide spaced eyes (ocular hypertelorism), front facing (anteverted) nostrils, a broad upper lip, a malformed ( saddle bag ) scrotum, and laxity of the ligaments resulting in… …   Medical dictionary

  • hypertelorism — Abnormal distance between two paired organs. [hyper + G. tele, far off, + horizo, to separate, fr. horos, a boundary] Bixler type h. accompanying features are microtia and clefting of the lip, palate, and nose, mental deficiency, atresia of the …   Medical dictionary

  • Aarskog-Scott syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29329 ICD10 = ICD10|Q|87|1|q|80 ICD9 = ICD9|759.89 ICDO = OMIM = 100050 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Aarskog Scott syndrome is an inherited disease characterized by …   Wikipedia

  • Spitzer Haaransatz — bei einem 17jährigen Mädchen Spitzer Haaransatz beim Mann …   Deutsch Wikipedia

  • Widow's peak — Spitzer Haaransatz bei einem 17jährigen Mädchen Spitzer Haaransatz beim Mann …   Deutsch Wikipedia

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