Dysplasia, faciodigitogenital
- 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") 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.
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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
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
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 )… … Medical dictionary
Shawl scrotum — is a condition in which the scrotum surrounds the penis, resembling a shawl .It is a characteristic of some syndromes such as Aarskog Scott syndrome, Teebi syndrome, craniofrontonasal dysplasia, faciodigitogenital syndrome, Hunter Carpenter… … Wikipedia
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 — 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
Witwenspitze — Spitzer Haaransatz bei einem 17jährigen Mädchen Spitzer Haaransatz beim Mann … Deutsch Wikipedia
Síndrome de Aarskog-Scott — Clasificación y recursos externos CIE 10 Q 87.1; q 80 CIE 9 759.89 OMIM … Wikipedia Español
