Distal duplication 17q

Orpha code: 3379OMIM code:

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Dystalna duplikacja 17q
Telomerowa duplikacja 17q
Trisomia 17qter
Telomeric duplication 17q
Trisomy 17qter
Distal trisomy 17q
Kod ORPHA
3379
Kod OMIM
-
Kod ICD10
Q92.3
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl