Weill-Marchesani syndrome

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

合計: 10

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PMID (PMCID)
29191498	MIXED_SAMPLE	Child
	A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
	Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH. Eur J Med Genet. 2018;61(4):219-224.
	Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities within this group of disorders and are characterized by short stature, short hands, stiff joints, skin thickening, facial anomalies, normal intelligence and skeletal abnormalities.
25142510	MIXED_SAMPLE	Infant, Newborn
	Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
	Wang Y, Zhang H, Ye J, Han L, Gu X. J Hum Genet. 2014;59(10):563-7.
	Geleophysic dysplasia (GD), acromicric dysplasia (AD) and Weill-Marchesani syndrome (WMS) are rare disorders with overlapping characteristics, such as short stature, short hands and feet, joint limitations, skin thickening, mild facial anomalies, normal intelligence and abnormal skeletal symptoms, with GD distinct by progressive cardiac valvular thickening and WMS distinct by microspherophakia and ectopia lentis.
24940034 (4057248)	MIXED_SAMPLE	Adult
	Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
	Shah MH, Bhat V, Shetty JS, Kumar A. Mol Vis. 2014;20:790-6.
	Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder, characterized by short stature, microspherophakic lens, and stubby hands and feet (brachydactyly).
22486325	MIXED_SAMPLE	Young Adult
	Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.
	Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS. Ophthalmic Genet. 2012;33(4):235-9.
	Weill-Marchesani syndrome is characterized by spherophakia, short stature, short hands/feet, joint stiffness, and occasional cardiac abnormalities.
22864047	MALE	Young Adult
	Weill- Marchesani syndrome: a rare case report.
	Puri LR, Sharma H, Aryal S. Nepal J Ophthalmol. 2012;4(2):336-8.
	Weill-Marchesani syndrome can present wwith progressive myopia in a person of short stature and brachydactyly.
16749567	MALE	Adult
	Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome.
	Riad W, Abouammoh M, Fathy M. Middle East J Anaesthesiol. 2006;18(4):725-31.
	Weill-Marchesani syndrome is characterized by short stature, broad head and other facial abnormalities such as hypoplastic maxilla and distinctive ocular abnormalities.
16633042	MALE	Adult
	Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome.
	Burakgazi AZ, Ozbek Z, Rapuano CJ, Rhee DJ. Cornea. 2006;25(3):361-3.
	Based on our findings of short stature, shortened and thickened fingers, relatively normal axial length, microspherophakia, high myopia, and glaucoma, we diagnosed the patient with Weill-Marchesani syndrome.
11712631	FEMALE	Adult
	Uncontrolled glaucoma secondary to an arteriovenous malformation in a Weill-Marchesani patient.
	Derose CJ, Jeffrey A. Optometry. 2001;72(10):641-8.
	The patient demonstrates the known clinical signs of Weill-Marchesani syndrome: short stature, microspherophakia, lens subluxation, and secondary glaucoma.
2738900	MIXED_SAMPLE	Child
	Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
	MacDermot KD, Patton MA, Williams MJ, Winter RM. J Med Genet. 1989;26(6):382-5.
	The other two were sibs with short stature and their parents were heterozygous for the Weill-Marchesani syndrome.
6739588	MIXED_SAMPLE
	Median nerve compression in Weill-Marchesani syndrome.
	Dellon AL, Trojak JE, Rochman GM. Plast Reconstr Surg. 1984;74(1):127-30.
	Weill-Marchesani syndrome is a rare, generalized disorder of connective tissue manifested by short stature, brachymorphia, and spherophakia.