Mosaic trisomy 7

Orpha code: 1747OMIM code:

Definicja

Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Mosaic trisomy chromosome 7
Trisomy 7 mosaicism
Kod ORPHA
1747
Kod OMIM
-
Kod ICD10
Q92.1
Kod ICD11
-

No additional description.

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