ring chromosome 7
Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).
MONDO:0700014
chromosome 7 disorder
is_a
MONDO:0700091
ring chromosome disorder
is_a
R7
related
Ring 7
related
Ring chromosome type 7
exact
chromosome 7 ring
related
rose cluster 7
exact