Table 2.

Baraitser-Winter Cerebrofrontofacial Syndrome: Frequency of Select Features

Feature (% of Persons w/Feature)Comment
Dysmorphic craniofacial features (100%) incl:
  • Prominent metopic ridging or trigonocephaly (65%)
  • Widely spaced eyes (95%)
  • Bilateral ptosis (90%)
  • Highly arched eyebrows (90%)
  • Ocular coloboma (30%); may be assoc w/microphthalmia (<10%)
  • Small ears w/↑ posterior angulation, anteverted pinnae, overfolded, thick helix, & underdeveloped antihelix (73%)
  • Wide, short, thick, & upturned nose, w/large, flat tip (85%)
  • Long, smooth philtrum (84%)
  • Wide mouth w/downturned corners & everted vermilion of lower lip (45%)
  • Cleft lip & palate (10%)
Some persons may have rather mild craniofacial features & be considered nondysmorphic.
Developmental delay / intellectual disability (>95%)
  • Mild-to-moderate developmental delay w/mild intellectual disability
  • Delays profound if severe lissencephaly present
  • Rare individuals w/normal intelligence
Microcephaly (~50%)Microcephaly may be of prenatal onset, usually mild, but may be severe w/lissencephaly (≥ -5 SD).
Brain malformation (83%) incl:
  • Pachygyria (frontal or predominantly central) &/or subcortical band heterotopia (61%)
  • Periventricular heterotopias (2%)
  • Corpus callosum abnormality (20%)
Epilepsy (50%)
  • Typically assoc w/structural brain anomalies
  • Age dependent
  • Manifests from 1st mos of life to 24 yrs
Neuromuscular abnormality (20%)
  • Peculiar stance, joint contractures, & pterygia observed in some persons
  • Contractures & muscle wasting may progress w/time.
Vision abnormality (30%)Assoc w/coloboma & microphthalmia
Sensorineural &/or conductive hearing loss (35%)
  • Can be progressive
  • May be assoc w/inner ear malformation
Moderate short stature (44%)
Cardiovascular abnormality (38%)
Genitourinary abnormality (41%)Incl:
  • Hydronephrosis (23%)
  • Structural renal malformation (10%)
  • Micropenis, cryptorchidism, & hypospadias (rare)
Skeletal features (20%)Incl pectus deformity & broad thumbs & hallux
Gastrointestinal dysfunction (41%)
  • Frequent chronic constipation (requiring daily medication) & reflux disease
  • Occasional vomiting, diarrhea, feeding difficulties, failure to thrive
  • Several persons required tube feeding & PEG.
  • Rare anomalies incl intestinal malrotation, duodenal atresia, & bowel pseudo-obstruction
Abdominal anomaly (rare 1)Omphalocele
Malignancy (<5%)Lymphoma & leukemia have been reported.

PEG = percutaneous endoscopic gastrostomy

1.

From: Baraitser-Winter Cerebrofrontofacial Syndrome

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