Chromosome 3pter-p25 deletion syndrome

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;

Détails

Origin ID

613792;

UMLS CUI

C4706503;

Currated CISMeF NLP mapping
- 3p deletion syndrome [DO Concept]
- Chromosome 3, monosomy 3p [MeSH concept]
- Distal monosomy 3p [ORDO Disease]
- Distal monosomy 3p syndrome (disorder) [SNOMED CT concept]
- chromosome 3, monosomy 3p [MeSH Supplementary Concept]
DO Cross reference
- 3p deletion syndrome [DO Concept]
HPO term(s)
- Abnormal renal morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Atrioventricular canal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Broad nasal tip [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Flat occiput [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Long philtrum [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Macular hypoplasia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Periorbital fullness [HPO term]
- Postaxial polydactyly [HPO term]
- Postnatal growth retardation [HPO term]
- Preauricular pit [HPO term]
- Prominent metopic ridge [HPO term]
- Prominent nasal bridge [HPO term]
- Psychomotor retardation [HPO term]
- Ptosis [HPO term]
- Retrognathia [HPO term]
- Sacral dimple [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Tapered finger [HPO term]
- Thin vermilion border [HPO term]
- Triangular face [HPO term]
- Trigonocephaly [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Distal monosomy 3p [ORDO Disease]
See also inter- (CISMeF)
- 3p partial monosomy syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3p deletion syndrome [DO Concept]
- 3p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Chromosome 3, monosomy 3p [MeSH concept]
- Distal monosomy 3p syndrome (disorder) [SNOMED CT concept]
- chromosome 3, monosomy 3p [MeSH Supplementary Concept]

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