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Ring chromosome 15 syndrome
Disease definition
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).
ORPHA:96177
Classification level: Disorder- Synonym(s):
- Ring 15
- Ring chromosome 15
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: -
- ICD-10: Q93.2
- OMIM: -
- UMLS: C2931703
- MeSH: C538035
- GARD: 1328
- MedDRA: -
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