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Autosomal dominant Aarskog syndrome

MedGen UID:
460570
Concept ID:
C3149220
Disease or Syndrome
Synonym: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 
Monarch Initiative: MONDO:0007030
OMIM®: 100050

Definition

Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see 305400), but there is also evidence for autosomal dominant and autosomal recessive (227330) inheritance (summary by Grier et al., 1983). [from OMIM]

Recent clinical studies

Diagnosis

Pavone P, Marino S, Maniaci A, Cocuzza S
BMJ Case Rep 2020 Jun 30;13(6) doi: 10.1136/bcr-2020-235183. PMID: 32606125Free PMC Article
Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B
J Pediatr Endocrinol Metab 2016 Sep 1;29(9):1111-4. doi: 10.1515/jpem-2015-0482. PMID: 27544718
Teebi AS
Am J Med Genet 1987 Nov;28(3):581-91. doi: 10.1002/ajmg.1320280306. PMID: 3425628

Prognosis

Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B
J Pediatr Endocrinol Metab 2016 Sep 1;29(9):1111-4. doi: 10.1515/jpem-2015-0482. PMID: 27544718

Clinical prediction guides

van de Vooren MJ, Niermeijer MF, Hoogeboom AJ
Clin Genet 1983 Dec;24(6):439-45. doi: 10.1111/j.1399-0004.1983.tb00100.x. PMID: 6652957

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