Metaphyseal dysplasia, Schmid type (MCDS)
Metaphyseal dysplasia, McKusik type (CHH) [DS:H01966]
Metaphyseal dysplasia, Jansen type (MCDJ)
Metaphyseal dysplasia, Pyle type (PYL)
Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB)
Metaphyseal dysplasia Spahr type (MDST)
Metaphyseal anadysplasia (MANDP)
Metaphyseal dysplasia without hypotrichosis [DS:H00518]

Maroteaux P, Verloes A, Stanescu V, Stanescu R

Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course.

Am J Med Genet 39:4-10 (1991)
DOI:10.1002/ajmg.1320390103

Nishimura G, Ikegawa S, Saga T, Nagai T, Aya M, Kawano T

Metaphyseal anadysplasia: evidence of genetic heterogeneity.

Am J Med Genet 82:43-8 (1999)
DOI:10.1002/(SICI)1096-8628(19990101)82:1<43::AID-AJMG9>3.0.CO;2-I

Kozlowski K, Campbell JB, Azouz ME, Sprague P

Metaphyseal chondrodysplasia, type Jansen.

Australas Radiol 43:544-7 (1999)
DOI:10.1046/j.1440-1673.1999.00729.x

Cohen MM Jr

Some chondrodysplasias with short limbs: molecular perspectives.

Am J Med Genet 112:304-13 (2002)
DOI:10.1002/ajmg.10780

Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.

Nat Genet 5:79-82 (1993)
DOI:10.1038/ng0993-79

Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

J Hum Genet 51:706-10 (2006)
DOI:10.1007/s10038-006-0015-3

Schipani E, Kruse K, Juppner H

A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.

Science 268:98-100 (1995)
DOI:10.1126/science.7701349

Kiper POS, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonafe L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson BJ, Takita H, Rivolta C, Superti-Furga A, Baron R

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

N Engl J Med 374:2553-2562 (2016)
DOI:10.1056/NEJMoa1509342

Al-Yassin A, Calder AD, Harrison M, Lester T, Lord H, Oldridge M, Watkins S, Keen R, Wakeling EL

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

Eur J Hum Genet 26:1288-1293 (2018)
DOI:10.1038/s41431-018-0166-7

Bonafe L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Bechec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.

Am J Med Genet A 164A:1175-9 (2014)
DOI:10.1002/ajmg.a.36431

Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

Am J Hum Genet 85:168-78 (2009)
DOI:10.1016/j.ajhg.2009.06.014