Roberts syndrome is a autosomal recessive disorder featuring severe pre- and postnatal growth retardation, craniofacial anomalies, and tetraphocomelia that is caused by mesomelic shortening. SC phocomelia is milder with less marked limb reduction. Mutations in the ESCO2 gene have been detected in both disorders.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H00572 Roberts-SC phocomelia syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06512 Chromosome cohesion and segregation
H00572 Roberts-SC phocomelia syndrome
Juberg-Hayward syndrome (JHS) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation of radial head and fusion of humerus and radius leading to elbow restriction. It has been reported that JHS is caused by mutations in ESCO2, a gene involved in cohesin complex formation.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02581 Juberg-Hayward syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06512 Chromosome cohesion and segregation
H02581 Juberg-Hayward syndrome
