Ring chromosome 2

Også kjent som: Ringkromosom 2 syndrom
Engelsk navn: Ring chromosome 2 syndrome
Engelske synonym: Ring 2,Ring chromosome 2


Definisjon

Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).

Fra Orphanet

ORPHA: 96171
Klassifiseringsnivå: Disorder
ICD-10: Q93.2

Mer informasjon


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