ORPHA:1446

Ring chromosome 22 syndrome

Synonyms: Ring 22 · Ring chromosome 22 · r(22) syndrome

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

A rare autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Ring chromosome 22 syndrome	Ring 22 · Ring chromosome 22 · r(22) syndrome
fr	Syndrome du chromosome 22 en anneau	Chromosome 22 en anneau · Syndrome r(22)
de	Ringchromosom-22-Syndrom	Ringchromosom 22
es	Síndrome del cromosoma 22 en anillo	Anillo 22 · Cromosoma 22 en anillo · Síndrome r(22)
it	Cromosoma 22 ad anello
nl	Ringchromosoom 22-syndroom	Ring 22 · Ringchromosoom 22 · r(22)-syndroom
pt	Síndrome do cromossoma 22 em anel	Anel do cromossoma 22
pl	Chromosom pierścieniowy 22	= en
cs	Ring chromozom 22	= en
uk	Синдром кільцевої хромосоми 22	Синдром r(22) · Кільце 22 · Кільцева хромосома 22
zh	环染色体22综合征	r(22)综合征
tr	Halka kromozom 22 sendromu	Halka 22 · r(22) sendromu · Halka kromozomu 22

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q93.2	NTBT	attributed	validated
ICD-11	LD7Y	NTBT	index	validated
MONDO	0015438	E		validated
MeSH	C536795	E		validated
UMLS	C0265492	E		validated
GARD	1336	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:363203Ring chromosome 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

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		100 cases	Worldwide	Case(s)	Validated	ISBN:978-3-8055-9280-2[OTHER]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_ISBN:978-3-8055-9280-2[OTHER]

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

33 annotations · validated 2017-10-04

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0004691	2-3 toe syndactyly
HP:0000729	Autistic behavior
HP:0000027	Azoospermia
HP:0000414	Bulbous nose
HP:0000750	Delayed speech and language development
HP:0002376	Developmental regression
HP:0000268	Dolichocephaly
HP:0000969	Edema
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0002066	Gait ataxia
HP:0001290	Generalized hypotonia
HP:0001263	Global developmental delay
HP:0001510	Growth delay
HP:0007328	Impaired pain sensation
HP:0000719	Inappropriate behavior
HP:0001176	Large hands
HP:0000276	Long face
HP:0001004	Lymphedema
HP:0000400	Macrotia
HP:0000252	Microcephaly
HP:0011800	Midface retrusion
HP:0001067	Neurofibromas
HP:0000307	Pointed chin
HP:0010808	Protruding tongue
HP:0001250	Seizure
HP:0000574	Thick eyebrow
HP:0012471	Thick vermilion border
HP:0100797	Toenail dysplasia
HP:0012810	Wide nasal base
Occasional (29-5%)
HP:0001331	Absent septum pellucidum
HP:0001274	Agenesis of corpus callosum
HP:0002202	Pleural effusion

Annotation source: 26043508[PMID]_25286802[PMID]_24700634[PMID]_21271667[PMID]_20709628[PMID]_19940762[PMID]_16059935[PMID]_15372517[PMID]_15305353[PMID]_12752574[PMID]_10706359[PMID]_10204853[PMID]_1424240[PMID]_519902[PMID]_912941[PMID]_4697858[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/1446
This record as JSON: /data/d/1446.json