Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

Orpha code: 96182OMIM code:

Definition

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).

Disease data
Classification

Etiological subtype

Synonyms
UPD(7)mat
UPD(7)mat
ORPHA code
96182
OMIM code
-
ICD10 code
Q87.1
ICD11 code
-

No additional description.

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