Chromosome 3q13.31 Deletion Syndrome
Description
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.
Clinical Features
Top most frequent phenotypes and symptoms related to Chromosome 3q13.31 Deletion Syndrome
- Global developmental delay
- Short stature
- Generalized hypotonia
- Scoliosis
- Hypertelorism
- Ataxia
- Strabismus
- Muscular hypotonia
- Ptosis
- Cryptorchidism
Incidence and onset information
— Not enough data available about incidence and published cases.
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Alternate names
Chromosome 3q13.31 Deletion Syndrome Is also known as ;del(3)(q13); monosomy 3q13.
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