Table 3.

Allelic Disorders to Consider in the Differential Diagnosis of Geleophysic Dysplasia

Gene(s)DisorderMOIFeatures of Disorder
Overlapping w/geleophysic dysplasiaDistinguishing from geleophysic dysplasia
ADAMTSL2 Dysplastic cortical hyperostosis, Al-Gazali type 1AR
  • Moderate IUGR
  • Relative macrocephaly
  • Short limbs, w/very short hands
  • Stiff joints
  • More severe: lethal during neonatal period
  • Hypertrichosis
  • Large anterior fontanelle
  • Short neck
  • Generalized bone sclerosis
  • Mild platyspondyly
FBN1
LTBP3 		FBN1-related acromicric dysplasia (OMIM 102370) & LTBP3-related acromicric dysplasia 2, 3AD
  • Short stature
  • Short hands
  • Stiff joints
  • Delayed bone age
  • Cone-shaped phalangeal epiphyses
  • Thickened skin
  • Heart disease
  • Less severe outcome
  • Absence of progressive cardiac valvular thickening
  • Absence of distinctive facial features
  • Absence of hepatomegaly
  • See footnote 4.
FBN1 FBN1-related Weill-Marchesani syndrome, dominant (See Weill-Marchesani Syndrome.)AD 4Abnormalities of the lens of the eye (typically recognized in childhood) incl:
  • Microspherophakia (small spherical lens)
  • Myopia secondary to abnormal shape of the lens
  • Ectopia lentis (abnormal position of the lens)
  • Glaucoma (can lead to blindness)
Absence of hepatomegaly

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

1.
2.
3.

Moore-Federman syndrome is probably the same as acromicric dysplasia.

4.

Additional clinical findings in 22 individuals with acromicric dysplasia from 15 families include: frequent ear, tracheal, and respiratory complications; non-progressive heart disease (4/22; 2 with bicuspid aortic valve, 2 with atrial septal defect); and myopia (8/20) [Author, personal observations].

From: Geleophysic Dysplasia

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