Table 3.

Genes of Interest in the Differential Diagnosis of MID1-Related Opitz G/BBB Syndrome

Gene / Genetic MechanismDisorderMOIFeatures of This Disorder
Overlapping w/MID1-OSDistinguishing from MID1-OS
22q11.2 deletion22q11.2 deletion syndrome 1AD
  • Facial dysmorphism
  • Cleft lip/palate
  • Congenital heart defects
  • Laryngotracheoesophageal defects
  • DD
  • Genitourinary defects
  • Skeletal anomalies
  • Autoimmune disorders
  • Hypotonia, polymicrogyria
CASK CASK-related FG syndrome / XL ID ± nystagmus 2 (See CASK Disorders.)XL
  • Facial dysmorphism
  • Cryptorchidism
  • DD
  • Feeding problems
  • Joint hyperlaxity
  • Short stature
  • Hypotonia
EFNB1 Craniofrontonasal dysplasia (OMIM 304110)XL
  • Facial dysmorphism
  • Cleft lip/palate
  • Hypospadias
  • DD
  • Hypoplasia or agenesis of corpus callosum
  • Skeletal, chest, skin, nail, & hair defects
  • Short stature
  • Hypotonia
MED12 MED12-related FG syndrome (See MED12-Related Disorders.)XL
  • Facial dysmorphism
  • Congenital heart defects
  • Cryptorchidism
  • DD/ID
  • Congenital hypotonia w/joint hyperlaxity evolving into spasticity
  • Chronic constipation
  • Characteristic behavior (affable & eager to please)
SPECC1L SPECC1L syndrome 3 (also referred to as AD Opitz G/BBB syndrome & Teebi hypertelorism syndrome 1 [OMIM 145420])AD
  • Facial dysmorphism
  • Cleft lip/palate
  • Congenital heart defects
  • DD/ID
  • Short stature
  • Congenital diaphragmatic hernias
  • Bicornuate uterus
  • Absence of hypospadias
ZEB2 Mowat-Wilson syndrome AD
  • Facial dysmorphism
  • Cardiovascular defects
  • Hypospadias
  • DD
  • Hypoplasia or agenesis of corpus callosum
  • Ocular & gastrointestinal abnormalities
  • Short stature
  • Pectus excavatum
  • Hypotonia

AD = autosomal dominant; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked

1.

It is now recognized that 22q11.2 deletion syndrome encompasses the phenotypes previously described as DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, some cases of autosomal dominant Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (see 22q11.2 Deletion Syndrome).

2.

An FG syndrome (FGS)-like phenotype has been suggested as a distinct CASK-related phenotype based on findings in affected males from two families (see CASK Disorders). However, with the exception of MED12-related FGS, FGS is not clearly defined, and CASK-related FGS is not discernible as a phenotype. Thus, it seems more appropriate to subsume the phenotype described in these families under X-linked intellectual disability with or without nystagmus.

3.

From: MID1-Related Opitz G/BBB Syndrome

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