ORPHA:96129

Distal deletion 19p syndrome

Synonyms: Distal deletion 19p13.3 · Distal monosomy 19p13.3 · Telomeric deletion 19p

Type: Malformation syndrome
Group: Disorder
Age of onset: Antenatal, Neonatal
Status: active

Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Distal deletion 19p syndrome	Distal deletion 19p13.3 · Distal monosomy 19p13.3 · Telomeric deletion 19p
fr	Syndrome de délétion distale 19p	Délétion télomérique 19p · Monosomie distale 19p13.3 · Délétion distale 19p13.3
de	Distale Deletion 19p	Deletion 19p, distale · Distale Deletion 19p13.3 · Telomere Deletion 19p
es	Síndrome de deleción terminal 19p	Deleción terminal 19p13.3 · Monosomía terminal 19p13.3
it	Sindrome delezione 19p distale	Delezione 19p13.3 distale · Delezione 19p telomerica
nl	Distale deletie 19p-syndroom	Distale deletie 19p13.3 · Distale monosomie 19p13.3 · Telomerische deletie 19p
pt	Deleção distal 19p	Deleção distal 19p13.3 · Deleção telomérica 19p · Monossomia distal 19p13.3
pl	Zespół delecji dystalnej 19p	Delecja dystalna 19p · Delecja telomerowa 19p
cs	Distální monozomie 19p13.3	Distální delece 19q · Telomerická delece 19p
uk	Дистальне видалення 19p	Дистальна делеція 19p13.3 · Дистальна моносомія 19p13.3 · Делеція теломерної ділянки 19p
zh	19p13.3远端单体	19号染色体短臂端粒缺失
tr	Distal monozomi 19p13.3	Distal delesyon 19p · Telomerik delesyon 19p

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q93.5	NTBT	attributed	validated
ICD-11	LD44.K1	NTBT	index	validated
MONDO	0019893	E		validated
UMLS	C4749277	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:261983Partial deletion of the short arm of chromosome 19 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

23 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001596	Alopecia
HP:0001166	Arachnodactyly
HP:0000175	Cleft palate
HP:0000405	Conductive hearing impairment
HP:0004313	Decreased circulating antibody level
HP:0001263	Global developmental delay
HP:0000327	Hypoplasia of the maxilla
HP:0001252	Hypotonia
HP:0001249	Intellectual disability
HP:0001382	Joint hypermobility
HP:0010562	Keloids
HP:0000276	Long face
HP:0010511	Long toe
HP:0000358	Posteriorly rotated ears
HP:0010882	Pulmonary valve atresia
HP:0001250	Seizure
HP:0000407	Sensorineural hearing impairment
HP:0000322	Short philtrum
HP:0000574	Thick eyebrow
HP:0001704	Tricuspid valve prolapse
HP:0001537	Umbilical hernia
HP:0100672	Vaginal hernia
HP:0001629	Ventricular septal defect

Run the differential on the 12 obligate / very frequent terms

Annotation source: 19610110[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/96129
This record as JSON: /data/d/96129.json