Hand-Foot-Uterus Syndrome

Stern, Aaron; Gall, John C.; Perry, Burton L.; Stimson, Cyrus W.

doi:10.1016/s0140-6736(69)91994-1

Cited by 8 publications

(10 citation statements)

References 11 publications

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“…It has been speculated that UMS is allelic to handfoot-uterus syndrome (HFUS; OMIM 140000) [Rogers and Anderson, 19951. HFUS is an autosomal dominant disorder that was originally described by Stern et al [1970]. Manifestations of HFUS which are similar to these of UMS include digital hypoplasia, carpal fusion, supernumerary nipples, and genital anomalies.…”

Section: Discussionmentioning

confidence: 99%

Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome

1996

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The ulnar‐mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies. We present the clinical descriptions of 33 members of a six generation kindred with UMS. The number of affected individuals in this family is more than the sum of all previously reported cases of UMS. The clinical expression of UMS is highly variable. While most patients have limb deficiencies, the range of abnormalities extends from hypoplasia of the terminal phalanx of the 5th digit to complete absence of the ulna and 3rd, 4th, and 5th digits. Moreover, affected individuals may have posterior digital duplications with or without contralateral limb deficiencies. Apocrine gland abnormalities range from diminished axillary perspiration with normal breast development and lactation, to complete absence of the breasts and no axillary perspiration. Dental abnormalities include misplaced or absent teeth. Affected males consistently undergo delayed puberty, and both sexes have diminished to absent axillary hair. Imperforate hymen were seen in some affected women. A gene for UMS was mapped to chromosome area 12q23–q24.1. A mutation in the gene causing UMS can interfere with limb patterning in the proximal/distal, anterior/posterior, and dorsal/ventral axes. This mutation disturbs development of the posterior elements of forearm, wrist, and hand while growth and development of the anterior elements remain normal. © 1996 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 99%

Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome

1996

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“…Hand‐foot‐genital syndrome (HFGS; MIM 140000) is another rare dominantly inherited condition, first described in 1970 [Poznanski et al, 1970; Stern et al, 1970], in which malformation of the distal limbs is accompanied by malformation of the lower urogenital tract. In the hands and feet, the most striking abnormalities are short proximally placed thumbs, hypoplastic thenar eminences, and short medially deviated halluces, with small pointed first distal phalanges and short first metacarpals/metatarsals (Fig.…”

Section: Hand‐foot‐genital Syndrome and Hoxa13 Mutationsmentioning

confidence: 99%

Limb malformations and the human HOX genes

2002

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HOX genes encode a family of transcription factors of fundamental importance for body patterning during embryonic development. Humans, like most vertebrates, have 39 HOX genes organized into four clusters, with major roles in the development of the central nervous system, axial skeleton, gastrointestinal and urogenital tracts, external genitalia, and limbs. The first two limb malformations shown to be caused by mutations in the human HOX genes were synpolydactyly and hand-foot-genital syndrome, which result from mutations in HOXD13 and HOXA13, respectively. This review describes a variety of limb malformations now known to be caused by specific different mutations in these two genes, including polyalanine tract expansions, nonsense mutations, and missense mutations, many with phenotypic consequences that could not have been predicted from previous knowledge of mouse models or HOX protein function. Limb malformations may also result from chromosomal deletions involving the HOXD and HOXA clusters, and from regulatory mutations affecting single or multiple HOX genes.

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“…Genital abnormalities include hypospadias in males and Müllerian duct fusion defects in females. The latter range from isolated longitudinal vaginal septum to double uterus with double cervix, and have led to foetal loss or neonatal death in at least three families [13–15]. Urinary abnormalities include ectopic ureteric orifices, vesico‐ureteric reflux and pelvi‐ureteric junction obstruction, and can lead to chronic pyelonephritis, renal insufficiency and renal transplant [14–16].…”

Section: Hand‐foot‐genital Syndrome and Hoxa13mentioning

confidence: 99%

“…4G). The striking similarity of the limb abnormalities in Hd /+ mice and HFGS patients then prompted an examination of the HOXA13 gene in the family in which HFGS had first been described [13], leading to the discovery that affected individuals were indeed heterozygous for a nonsense mutation in the homeobox [5] (Fig. 4A,C).…”

Section: Hand‐foot‐genital Syndrome and Hoxa13mentioning

confidence: 99%

Human HOX gene mutations

Goodman¹,

Scambler²

2001

Clinical Genetics

106

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HOX genes play a fundamental role in the development of the vertebrate central nervous system, axial skeleton, limbs, gut, urogenital tract and external genitalia, but it is only in the last 4 years that mutations in two of the 39 human HOX genes have been shown to cause congenital malformations; HOXD13, which is mutated in synpolydactyly, and HOXA13, which is mutated in Hand-Foot-Genital syndrome. Here we review the mutations already identified in these two genes, consider how these mutations may act, and discuss the possibility that further mutations remain to be discovered both in developmental disorders and in cancer.

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Hand-Foot-Uterus Syndrome

Cited by 8 publications

References 11 publications

Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome

Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome

Limb malformations and the human HOX genes

Human HOX gene mutations

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