Mosaic trisomy 10

Orpha code: 96063OMIM code:

Definition

Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.

Disease data
Classification

Malformation syndrome

Synonyms
Mosaic trisomy chromosome 10
Trisomy 10 mosaicism
Mosaic trisomy chromosome 10
Trisomy 10 mosaicism
ORPHA code
96063
OMIM code
-
ICD10 code
Q92.1
ICD11 code
-

No additional description.

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