Table 2.

Select Clinical Features of ESCO2 Spectrum Disorder

FeatureProportion of Individuals w/Feature 1Comment
Growth deficiency49/49 (100%)
Microcephaly38/40 (95%)
Phocomelia53/53 (100%)
  • Upper limbs only (21%)
  • Upper & lower limbs (79%)
Bone fusions15/23 (65%)
  • Knees, ankles, wrists, elbows, talipes equinovarus, syndactyly (18%)
  • Flexion contractures (16%)
Cleft lip & palate29/48 (56%)Cleft palate only (5%)
DD/ID23/38 (61%)
Ocular
abnormalities		(37%)
  • Corneal opacities (33%)
  • Microphthalmia (8%)
  • Nystagmus (8%)
  • Glaucoma (8%)
Urogenital
anomalies		14/30 (48%)
  • Cryptorchidism (22%)
  • Enlarged phallus (33%)
  • Enlarged clitoris (45%)
Renal anomalies1/8 (12%)Polycystic kidney; horseshoe kidney
Cardiac anomalies10/34 (29%)ASD, VSD

ASD = atrial septal defect; DD/ID = developmental delay / intellectual disability; VSD = ventricular septal defect

1.

Numerator = number of individuals with the feature; denominator = number of individuals with information on the feature.

From: ESCO2 Spectrum Disorder

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