Table 2.

Disorders to Consider in the Differential Diagnosis of Donnai-Barrow Syndrome

Differential Diagnosis DisorderGene(s)MOIClinical Features of This Disorder
Overlapping w/DBSDistinguishing from DBS
Pallister-Killian syndrome (12p tetrasomy mosaicism) (OMIM 601803)NASporadic
  • Diaphragmatic hernia
  • Relatively high birth weight
  • Widely spaced eyes
  • Marked hypotonia
  • More severe DD in some
  • Skin w/hypo- & hyperpigmented streaks
  • Coarse facial features
  • Sparse hair
Fryns syndrome UnknownAR
  • Diaphragmatic defects
  • Occasionally agenesis of corpus callosum
  • Widely spaced eyes
  • Abnormal fingers & toes: brachytelephalangy &/or underdeveloped nails
  • Characteristic craniofacial dysmorphisms
  • Orofacial clefting
  • Polyhydramnios
Chudley-McCullough syndrome (OMIM 604213) GPSM2 AR
  • Sensorineural hearing loss
  • Partial agenesis of corpus callosum
  • Hydrocephalus &/or ventriculomegaly
  • Cortical dysplasia &/or subcortical gray matter heterotopia
  • Usually normal psychomotor development
Acrocallosal syndrome (OMIM 200990) KIF7 AR
  • Widely spaced eyes
  • Absence of corpus callosum
  • Macrocephaly
  • Large anterior fontanelle
Preaxial or postaxial polydactyly, occasionally syndactyly
Dent disease 1, Dent disease 2, 1 Lowe syndrome CLCN5
OCRL 		XLLow molecular-weight proteinuria
  • Hypercalciuria, nephrocalcinosis, & nephrolithiasis
  • Rickets
  • Congenital or acquired cataracts, & glaucoma
Craniofrontonasal syndrome (OMIM 304110) EFNB1 XL
  • Congenital diaphragmatic hernia
  • Widely spaced eyes
  • Agenesis of corpus callosum
  • Craniofacial asymmetry, craniosynostosis, brachycephaly (more severe in females)
  • Clefting of nasal tip
  • Anomalies of joints & digits (e.g., grooved nails)
Stickler syndrome COL2A
COL9A1
COL9A2
COL9A3
COL11A1
COL11A2 2		AD
AR
  • High myopia & occasional retinal detachment
  • Hearing loss
  • Pierre Robin sequence
  • Midface hypoplasia
  • Joint problems (hypermobility, arthritis)

AD = autosomal dominant; AR = autosomal recessive; DD = developmental delay; MOI = mode of inheritance; NA = not applicable; XL = X-linked

1.

Clinical and biochemical overlap has been proposed between these conditions and DBS

2.

Heterozygous pathogenic variants in COL11A2 are associated with Stickler syndrome without ocular features.

From: Donnai-Barrow Syndrome

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