Table 5.

Disorders to Consider in the Differential Diagnosis of Geleophysic Dysplasia

Gene(s)DisorderMOIFeatures of Disorder
Overlapping w/geleophysic dysplasiaDistinguishing from geleophysic dysplasia
ADAMTS10
ADAMTS17
FBN1
LTBP2 		Weill-Marchesani syndrome AD
AR 1		See Table 2.See Table 2.
ADAMTSL2 Dysplastic cortical hyperostosis, Al-Gazali typeAR
FBN1
LTBP3 		Acromicric dysplasiaAD
SMAD4 Myhre syndrome AD
  • IUGR
  • Short stature
  • Short hands & feet
  • Progressive joint limitation & contractures
  • Thickened skin
  • Heart involvement
  • Characteristic facial features w/prognathism
  • Calvarial thickening
  • Variable degree of cognitive impairment
  • Mixed conductive & sensorineural deafness

AD = autosomal dominant; AR = autosomal recessive; IUGR = intrauterine growth restriction; MOI = mode of inheritance

1.

FBN1-related Weill-Marchesani syndrome (WMS) is inherited in an autosomal dominant manner. ADAMTS10-, ADAMTS17-, and LTPBP2-related WMS are inherited in an autosomal recessive manner.

From: Geleophysic Dysplasia

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