Preferred Label : Chromosome 3pter-p25 deletion syndrome;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : 3p- syndrome;
Description : Characteristic features of the distal 3p- syndrome include low birth weight, microcephaly,
trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus,
downslanting palpebral fissures, and micrognathia. Postaxial polydactyly, renal anomalies,
cleft palate, congenital heart defects (especially atrioventricular septal defects),
preauricular pits, sacral dimple, and gastrointestinal anomalies are variable features.
Although intellectual deficits are almost invariably associated with cytogenetically
visible 3p deletions, rare patients with a 3p26-p25 deletion and normal intelligence
or only mild abnormalities have been described (summary by Shuib et al., 2009).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by deletion of 6-12Mb on 3pter-p25;
Prefixed ID : #613792;
Origin ID : 613792;
UMLS CUI : C4706503;
Currated CISMeF NLP mapping
DO Cross reference
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)