Table 3.

Disorders to Consider in the Differential Diagnosis of Myhre Syndrome

Gene(s)Differential
Disorder		MOIClinical Features of This Disorder
Overlapping w/Myhre syndromeDistinguishing from Myhre syndrome
ADAMTS10
ADAMTS17
FBN1
LTPBP2 		Weill-Marchesani syndrome 1AR
AD
  • IUGR
  • Short stature
  • Brachydactyly
  • Joint stiffness
  • Distinctive lens abnormalities 1
  • No hearing loss
ADAMTSL2
FBN1
LTBP3 		Geleophysic dysplasia 2AR
AD
  • IUGR
  • Short stature
  • Short hands & feet
  • Progressive joint limitation & contractures
  • Progressive cardiac valvar thickening
  • Thickened skin
  • Hepatomegaly
  • Characteristic facies
  • Delayed bone age
FBN1 Acromicric dysplasia (OMIM 102370)AD
  • IUGR
  • Short stature
  • Brachydactyly
  • Joint stiffness
  • Thickened skin
  • Characteristic external notch of 5th metacarpal & internal notch of femoral head
  • No hearing loss
  • Less frequent congenital cardiac anomalies
  • No calvarial thickening
FBN1 Stiff skin syndrome (OMM 184900)AD
  • Stiff skin
  • Stiff joints
  • Skin has rock-hard involvement.
  • Few cardiovascular features
  • No calvarial thickening
FLNB Spondylo-carpotarsal syndrome (OMIM 272460)AD
  • Short stature
  • Stiff joints
  • Conductive hearing loss
  • Clubfeet
  • Dental enamel hypoplasia
  • Block vertebrae
  • Carpal/tarsal fusions
  • No calvarial thickening
TRIM37 MULIBREY nanism (OMIM 253250)AR
  • IUGR
  • Short stature
  • Relatively large head
  • Constrictive pericarditis
  • Restrictive cardiomyopathy
  • Shorter stature
  • Small tongue
  • No calvarial thickening

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

1.

The ocular manifestations, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness.

2.

Major findings are likely to be present in the first year of life. Cardiac and respiratory involvement result in death before age five years in approximately 33% of individuals with geleophysic dysplasia 1.

From: Myhre Syndrome

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