Ringkromosom 15 syndrom

Også kjent som: Ring chromosome 15
Engelsk navn: Ring chromosome 15 syndrome
Engelske synonym: Ring 15,Ring chromosome 15


Definisjon

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).

Fra Orphanet

ORPHA: 96177
Klassifiseringsnivå: Disorder
ICD-10: Q93.2

Mer informasjon


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