ORPHA:508498
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Synonyms: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene |
| fr | Syndrome de déficience intellectuelle-cardiopathie congénitale-petite taille-laxité ligamentaire | Syndrome de déficience intellectuelle-cardiopathie congénitale-petite taille-laxité ligamentaire lié à une mutation de PUF60 |
| de | Intelligenzminderung-kardiale Anomalien-Kleinwuchs-Gelenkinstabilität-Syndrom | |
| es | Síndrome de discapacidad intelectual-anomalías cardíacas-talla baja-laxitud articular | Síndrome de discapacidad intelectual-anomalías cardíacas-talla baja-laxitud articular por una mutación en el gen PUF60 |
| it | Sindrome disabilità intellettiva-cardiopatie-bassa statura-lassità articolare | Sindrome disabilità intellettiva-cardiopatie-bassa statura-lassità articolare da mutazione del gene PUF60 |
| nl | Intellectuele achterstand - hartanomalieën - kleine gestalte - gewrichtslaxiteit-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-anomalias cardíacas-baixa estatura-hipermobilidade articular | Síndrome de perturbação do desenvolvimento intelectual-anomalias cardíacas-baixa estatura-hipermobilidade articular devido a mutação no gene PUF60 |
| pl | Zespół niepełnosprawności intelektualnej-wad serca-niskiego wzrostu-niestabilności stawów | = en |
| cs | Syndrom zahrnující mentální retardaci, srdeční anomálie, malý vzrůst a hypermobilitu kloubů | = en |
| uk | Синдром інтелектуальної недостатності-серцевих аномалій-низькорослості-розхитаності суглобів | |
| zh | 智力障碍-心脏畸形-身材矮小-关节松弛综合症 | |
| tr | Zihinsel yetersizlik-kardiyak anomaliler-kısa boy-eklem gevşekliği sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615583 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0034989 | E | validated | |
| UMLS | C5568572 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PUF60 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17042 | ENSG00000179950 | 604819 | 8q24.3 | poly(U) binding splicing factor 60 | 27804958[PMID]_28327570[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 28327570[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28327570[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.
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HPO phenotypes
78 annotations · validated 2020-01-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000589 | Coloboma | |
| HP:0011968 | Feeding difficulties | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0000365 | Hearing impairment | |
| HP:0000998 | Hypertrichosis | |
| HP:0000343 | Long philtrum | |
| HP:0000308 | Microretrognathia | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0012795 | Abnormality of the optic disc | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0000646 | Amblyopia | |
| HP:0001659 | Aortic regurgitation | |
| HP:0006712 | Aplasia/Hypoplasia of the ribs | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0000729 | Autistic behavior | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0010055 | Broad hallux | |
| HP:0006009 | Broad phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0012487 | Cerebellopontine angle arachnoid cyst | |
| HP:0025481 | Cervical hemivertebrae | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001680 | Coarctation of aorta | |
| HP:0009997 | Duplication of phalanx of hand | |
| HP:0000565 | Esotropia | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0010628 | Facial palsy | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0002827 | Hip dislocation | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000974 | Hyperextensible skin | |
| HP:0000540 | Hypermetropia | |
| HP:0005620 | Hypermobility of interphalangeal joints | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000047 | Hypospadias | |
| HP:0000612 | Iris coloboma | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0000545 | Myopia | |
| HP:0001052 | Nevus flammeus | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0001845 | Overlapping toe | |
| HP:0000767 | Pectus excavatum | |
| HP:0000125 | Pelvic kidney | |
| HP:0011682 | Perimembranous ventricular septal defect | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0001763 | Pes planus | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0000104 | Renal agenesis | |
| HP:0000089 | Renal hypoplasia | |
| HP:0000480 | Retinal coloboma | |
| HP:0009237 | Short 5th finger | |
| HP:0004279 | Short palm | |
| HP:0012745 | Short palpebral fissure | |
| HP:0003835 | Shoulder subluxation | |
| HP:0002360 | Sleep abnormality | |
| HP:0002414 | Spina bifida | |
| HP:0000486 | Strabismus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0008467 | Thoracic hemivertebrae | |
| HP:0002942 | Thoracic kyphosis | |
| HP:0002943 | Thoracic scoliosis | |
| HP:0001660 | Truncus arteriosus | |
| HP:0007687 | Unilateral ptosis | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28327570[PMID]_30352594[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/508498
- This record as JSON: /data/d/508498.json