ORPHA:329224
Schuurs-Hoeijmakers syndrome
Synonyms: PACS1-related NDD · PACS1-related neurodevelopmental disorder · PACS1-related syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability, motor and speech delay, and characteristic craniofacial features. Other features might include hypotonia, seizures, feeding difficulties, autism spectrum disorder, and sleep disturbances. Congenital anomalies, including cardiac, ocular, cerebral, and genitourinary defects, may also be observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schuurs-Hoeijmakers syndrome | PACS1-related NDD · PACS1-related neurodevelopmental disorder · PACS1-related syndrome |
| fr | Syndrome de Schuurs-Hoeijmakers | Trouble du neurodéveloppement associé à PACS1 · Syndrome lié à PACS1 |
| de | Schuurs-Hoeijmakers-Syndrom | PACS1-NDD · PACS1-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de Schuurs-Hoeijmakers | TND asociado al gen PACS1 · Trastorno del neurodesarrollo asociado al gen PACS1 · Síndrome asociado al gen PACS1 |
| it | Sindrome Schuurs-Hoeijmakers | Malattia del neurosviluppo correlata a PACS1 · NDD correlato a PACS1 · Sindrome correlata a PACS1 |
| nl | Syndroom van Schuurs-Hoeijmakers | PACS1-gerelateerde NDD · PACS1-gerelateerde neurologische ontwikkelingsstoornis · PACS1-gerelateerd syndroom |
| pt | Síndrome Schuurs-Hoeijmakers | Doença do neurodesenvolvimento PACS1 · PACS1-NDD · Síndrome PACS1-relacionada |
| pl | Niepełnosprawność intelektualna - dysmorfia czaszkowo-twarzowa - wnętrostwo | Zespół niepełnosprawności intelektualnej, dysmorfii czaszkowo-twarzowej oraz wnętrostwa · Zespół Schuursa-Hoeijmakersa |
| cs | Syndrom zahrnující mentální retardaci, kraniofaciální dysmorfismus a kryptorchismus | = en |
| uk | Синдром Шурса-Хоймейкерса | PACS1-NDD · PACS1 - порушення нейророзвитку · Синдром, повязаний з PACS1 |
| zh | 智力障碍-颅面畸形-隐睾综合征 | PACS1-related syndrome |
| tr | Zihinsel yetersizlik-kraniyofasiyal dismorfizm-kriptorşidi sendromu | PACS1-related syndrome |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615009 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0014006 | E | validated | |
| UMLS | C3554343 | E | validated | |
| GARD | 13043 | E | validated | |
| MedDRA | 10089146 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PACS1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:30032 | ENSG00000175115 | 607492 | 11q13.1-q13.2 | phosphofurin acidic cluster sorting protein 1 | 23159249[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 110 cases | Worldwide | Case(s) | Validated | 23159249[PMID]_41882293[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
59 annotations · validated 2019-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0001488 | Bilateral ptosis | |
| HP:0000414 | Bulbous nose | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001508 | Failure to thrive | |
| HP:0008947 | Floppy infant | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0000527 | Long eyelashes | |
| HP:0000369 | Low-set ears | |
| HP:0012523 | Oral aversion | |
| HP:0000411 | Protruding ear | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0012210 | Abnormal renal morphology | |
| HP:0001344 | Absent speech | |
| HP:0001631 | Atrial septal defect | |
| HP:0000729 | Autistic behavior | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0011304 | Broad thumb | |
| HP:0002389 | Cavum septum pellucidum | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000589 | Coloboma | |
| HP:0005421 | Decreased circulating complement C3 concentration | |
| HP:0000699 | Diastema | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001260 | Dysarthria | |
| HP:0010821 | Focal emotional seizure with laughing | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000023 | Inguinal hernia | |
| HP:0000294 | Low anterior hairline | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0002951 | Partial absence of cerebellar vermis | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0002650 | Scoliosis | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001195 | Single umbilical artery | |
| HP:0001238 | Slender finger | |
| HP:0000319 | Smooth philtrum | |
| HP:0000664 | Synophrys | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001537 | Umbilical hernia | |
| HP:0002317 | Unsteady gait | |
| HP:0001629 | Ventricular septal defect | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000154 | Wide mouth | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 23159249[PMID)_30113927[PMID]_26842493[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329224
- This record as JSON: /data/d/329224.json