Table 2.

Disorders with Intellectual Disability to Consider in the Differential Diagnosis of Weiss-Kruszka Syndrome

DiffDx DisorderGene(s)MOIClinical Features of DiffDx Disorder
Overlapping w/Weiss-Kruszka syndromeDistinguishing from Weiss-Kruszka Syndrome
Blepharophimosis, ptosis, and epicanthus inversus FOXL2 AD
  • Ptosis
  • Ear anomalies
  • Arched eyebrows
  • Blepharophimosis
  • Epicanthus inversus
  • Microphthalmia
  • Strabismus
Noonan syndrome BRAF
KRAS
LZTR1 1
MAP2K1
NRAS
PTPN11
RIT1
SOS1		AD
(AR) 1
  • Ptosis
  • Low set ears
  • Congenital heart disease
  • Widely spaced eyes
  • DD is less common than in Weiss-Kruszka syndrome
  • Short stature
  • Webbed neck
Hereditary congenital ptosis 1 (OMIM 178300)UnknownADPtosisBrain, craniofacial, & heart malformations absent
Hereditary congenital ptosis 2 (OMIM 300245)UnknownXLPtosis
  • XL inheritance
  • Brain, craniofacial, & heart malformations absent
Trigonocephaly I (OMIM 190440) FGFR1 ADTrigonocephalyMild synophrys
Trigonocephaly 2 (OMIM 614485) FREM1 ADTrigonocephalyMicrocephaly in some individuals

AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; DiffDx = differential diagnosis; MOI = mode of inheritance; XL = X-linked

1.

Autosomal recessive inheritance of LZTR1-related Noonan syndrome has been reported [Johnston et al 2018].

From: Weiss-Kruszka Syndrome

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