Ring chromosome 15 syndrome

Ring chromosome 15 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).

Small hand

Disproportionately small hand.


Total: 1

                      


(per page)
PMID (PMCID)
24551985
FEMALE
Ring chromosome 15: expanding the phenotype.
Eid MM, El-Bassyouni HT, Eid OM, Hamad SA, Elgerzawy A, Zaki MS, El-Ruby M.
Genet Couns. 2013;24(4):417-25.
Clinical examination of the patient revealed the characteristic features of ring chromosome 15, such as growth retardation, hypertelorism, frontal bossing, a highly arched palate, small hands and feet and cafe-au-lait spots.