ORPHA:261190

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Synonyms: 15q14 microdeletion syndrome · Del(15)(q14) · Monosomy 15q14

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion	15q14 microdeletion syndrome · Del(15)(q14) · Monosomy 15q14
fr	Syndrome de déficience intellectuelle-cardiopathie congénitale-fente palatine dû à une microdélétion 15q14	Del(15)(q14) · Monosomie 15q14 · Syndrome de microdélétion 15q14
de	Mikrodeletionssyndrom 15q14	Del(15)(q14) · Monosomie 15q14
es	Síndrome de paladar hendido-defecto cardíaco congénito-discapacidad intelectual por una microdeleción 15q14	Del(15)(q14) · Monosomía 15q14 · Síndrome de microdeleción 15q14
it	Sindrome da microdelezione 15q14	Del(15)(q14) · Monosomia 15q14
nl	15q14-microdeletiesyndroom	Del(15)(q14) · Monosomie 15q14
pt	Síndrome de microdeleção 15q14	Monossomia 15q14
pl	Zespół mikrodelecji 15q14	Del(15)(q14) · Monosomia 15q14
cs	Syndrom mikrodelece 15q14	Del(15)(q14) · Monozomie 15q14
uk	Синдром розщеплення піднебіння-вродженої вади серця-інтелектуальної недостатностї внаслідок мікроделеції 15q14	Синдром мікроделеції 15q14 · Del(15)(q14) · Моносомія 15q14
zh	染色体15q14微缺失综合征	15q14单体
tr	15q14 mikrodelesyon sendromu	Del (15) (q14) · Monozomi 15q14

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	616898	E		validated
ICD-10	Q93.5	NTBT	attributed	validated
ICD-11	LD44.F	NTBT	index	validated
MONDO	0014822	E		validated
UMLS	C4305230	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:652519Cleft palate-congenital heart defect-intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
ORPHA:262119Partial deletion of the long arm of chromosome 15 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MEIS2	Role in the phenotype of	Assessed	HGNC:7001	ENSG00000134138	601740	15q14	Meis homeobox 2	21504564[PMID]_20425846[PMID]_18561338[PMID]_18458017[PMID]_17163532[PMID]_24678003[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		9 cases	Worldwide	Case(s)	Validated	24678003[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_24678003[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.

28 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000175	Cleft palate
HP:0000750	Delayed speech and language development
HP:0001263	Global developmental delay
HP:0001249	Intellectual disability
HP:0004322	Short stature
Frequent (79-30%)
HP:0004422	Biparietal narrowing
HP:0000490	Deeply set eye
HP:0000252	Microcephaly
HP:0000341	Narrow forehead
HP:0000307	Pointed chin
HP:0000322	Short philtrum
HP:0000319	Smooth philtrum
Occasional (29-5%)
HP:0000164	Abnormality of the dentition
HP:0001061	Acne
HP:0001631	Atrial septal defect
HP:0000717	Autism
HP:0000444	Convex nasal ridge
HP:0002721	Immunodeficiency
HP:0000023	Inguinal hernia
HP:0002808	Kyphosis
HP:0001601	Laryngomalacia
HP:0000276	Long face
HP:0000343	Long philtrum
HP:0000369	Low-set ears
HP:0000426	Prominent nasal bridge
HP:0002650	Scoliosis
HP:0001250	Seizure
HP:0001629	Ventricular septal defect

Annotation source: 21504564[PMID]