Trisomi 17q
Også kjent som: Distal trisomy 17q
Engelsk navn: Distal duplication 17q
Engelske synonym: Distal trisomy 17q,Telomeric duplication 17q,Trisomy 17qter
Definisjon
Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.
Fra Orphanet
ORPHA: 3379
Klassifiseringsnivå: Disorder
ICD-10: Q92.3
