Skeletal dysplasia

Gene: ESCO2

Green List (high evidence)

Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients. Two families reported but same homozygous truncating variant and ethnicity, likely founder effect.

Disorder is allelic to the well established Roberts-SC phocomelia syndrome, MIM#268300, characterized by prenatal-onset growth retardation that continues in the postnatal period, extremity malformations, craniofacial anomalies, impaired intellectual development, and cardiac and renal anomalies. Prenatal-onset growth retardation may be mild to severe. The upper limbs are more affected than the lower limbs, where variations from tetraphocomelia (symetrical limb reduction) to hypomelia arising from mesomelic shortness are seen. Elbow and knee contractures, reduction in the number and length of fingers, thumb aplasia and hypoplasia, and clinodactyly may also be observed. Variable severity.

Created: 18 Mar 2021, 11:13 p.m. | Last Modified: 18 Mar 2021, 11:13 p.m.

Panel Version: 0.6772

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300

Publications

• 32977150