ORPHA:251066

8p11.2 deletion syndrome

Synonyms: Del(8)(p11.2) · Monosomy 8p11.2

Type: Malformation syndrome
Group: Disorder
Inheritance: Not applicable, Unknown
Age of onset: Infancy, Neonatal
Status: active

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	8p11.2 deletion syndrome	Del(8)(p11.2) · Monosomy 8p11.2
fr	Syndrome de délétion 8p11.2	Del(8)(p11.2) · Monosomie 8p11.2
de	Mikrodeletionssyndrom 8p11.2	Del(8)(p11.2) · Monosomie 8p11.2
es	Síndrome de deleción 8p11.2	Del(8)(p11.2) · Monosomía 8p11.2
it	Sindrome da delezione 8p11.2	Del(8)(p11.2) · Monosomia 8p11.2
nl	8p11.2-deletiesyndroom	Del(8)(p11.2) · Monosomie 8p11.2
pt	Síndrome de microdeleção 8p11.2	Monossomia 8p11.2
pl	Zespół delecji 8p11.2	Del(8)(p11.2) · Monosomia 8p11.2
cs	Syndrom delece 8p11.2	Del(8)(p11.2) · Monozomie 8m11.2
uk	Синдром делеції 8p11.2	Del(8)(p11.2) · Моносомія 8p11.2
zh	染色体8p11.2缺失综合征	8p11.2单体
tr	8p11.2 delesyon sendromu	Del (8) (s11.2) · Monozomi 8p11.2

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q93.5	NTBT	attributed	validated
ICD-11	LD44.81	NTBT	index	validated
MONDO	0016657	E		validated
UMLS	C4304505	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:261920Partial deletion of the short arm of chromosome 8 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ANK1	Role in the phenotype of	Assessed	HGNC:492	ENSG00000029534	612641	8p11.21	ankyrin 1	22771917[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		3 cases	Worldwide	Case(s)	Validated	15948194[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_15948194[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

36 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000864	Abnormality of the hypothalamus-pituitary axis
HP:0000028	Cryptorchidism
HP:0001263	Global developmental delay
HP:0001878	Hemolytic anemia
HP:0000135	Hypogonadism
HP:0000044	Hypogonadotropic hypogonadism
HP:0008736	Hypoplasia of penis
HP:0001249	Intellectual disability
HP:0000347	Micrognathia
HP:0004322	Short stature
HP:0004444	Spherocytosis
Frequent (79-30%)
HP:0000377	Abnormal pinna morphology
HP:0000027	Azoospermia
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000639	Nystagmus
HP:0004467	Preauricular pit
Occasional (29-5%)
HP:0000458	Anosmia
HP:0001631	Atrial septal defect
HP:0000581	Blepharophimosis
HP:0005280	Depressed nasal bridge
HP:0000286	Epicanthus
HP:0011968	Feeding difficulties
HP:0001510	Growth delay
HP:0000316	Hypertelorism
HP:0000612	Iris coloboma
HP:0000482	Microcornea
HP:0001634	Mitral valve prolapse
HP:0001643	Patent ductus arteriosus
HP:0000556	Retinal dystrophy
HP:0000960	Sacral dimple
HP:0001250	Seizure
HP:0001744	Splenomegaly
HP:0005815	Supernumerary ribs
HP:0001762	Talipes equinovarus
HP:0000582	Upslanted palpebral fissure

Run the differential on the 11 obligate / very frequent terms

Annotation source: 11920837[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/251066
This record as JSON: /data/d/251066.json