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3p- syndrome

MONDO:0013424

Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.

Also known as: 3p- syndrome, Chromosome 3, Monosomy 3p, chromosome 3pter-p25 deletion syndrome, distal 3p deletion, distal monosomy 3p, distal monosomy type 3p, monosomy 3pter, telomeric monosomy 3p

6 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Developmental defect during embryogenesis (7) Disease of genetic or genomic mechanism (2) Multiple congenital anomalies/dysmorphic syndrome (1) Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (1) Autosomal anomaly (0) Blepharophimosis - intellectual disability syndrome (0) Chromosome 3 disorder (0)
Trials to join now! 2 Not yet finished but already full! 1 Completed 3
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