ORPHA:444077
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Synonyms: CHOPS syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | CHOPS syndrome |
| fr | Syndrome de déficit cognitif-traits grossiers du visage-malformations cardiaques-obésité-atteinte pulmonaire-petite taille | Syndrome de CHOPS |
| de | Kognitive Störung-grobe Gesichtsszüge-Herzdefekte-Adipositas-Lungenbeteiligung-Kleinwuchs-Skelettdysplasie-Syndrom | CHOPS-Syndrom |
| es | Síndrome de deterioro cognitivo-facies tosca-defectos cardíacos-obesidad-afectación pulmonar-talla baja-displasia esquelética | Síndrome CHOPS |
| it | Sindrome deficit cognitivo-facies grossolana-cardiopatia-obesità-coinvolgimento polmonare-bassa statura-displasia scheletrica | Sindrome CHOPS |
| nl | Cognitieve beperking - grof aangezicht - hartdefecten - obesitas - pulmonale betrokkenheid - kleine gestalte - skeletdysplasie-syndroom | CHOPS-syndroom |
| pt | Síndrome de défice intelectual-facies grosseira-defeitos cardíacos-obesidade-envolvimento pulmonar-baixa estatura-displasia esquelética | |
| pl | Zespół zaburzeń poznawczych, grubych rysów twarzy, otyłości, zaburzeń płucnych, niskiego wzrostu i dysplazji szkieletowej | Zespół CHOPS |
| cs | Syndrom zahrnující kognitivní poruchu, hrubé rysy obličeje, srdeční defekty, obezitu, plicní poruchu, nízký vzrůst a skeletální dysplázii | CHOPS syndrom |
| uk | Синдром когнітивних порушень-грубих рис обличчя-вади серця-ожиріння-легеневого ураження - низькорослості-скелетної дисплазії | Синдром CHOPS |
| zh | 先天发育异常-粗大面容-心脏缺陷-肥胖-肺部受累-身材矮小-骨骼发育异常综合征/CHOPS综合征 | CHOPS综合征 |
| tr | Bilişsel bozukluk-kaba yüz-kalp defektleri-obezite-pulmoner tutulum-kısa boy-iskelet displazisi sendromu | CHOPS sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616368 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0014609 | E | validated | |
| UMLS | C4085597 | E | validated | |
| GARD | 12845 | 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 (6):
- 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 - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AFF4 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:17869 | ENSG00000072364 | 604417 | 5q31.1 | ALF transcription elongation factor 4 | 25730767[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 31058441[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_31058441[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
79 annotations · validated 2019-12-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0000463 | Anteverted nares | |
| HP:0001263 | Global developmental delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001249 | Intellectual disability | |
| HP:0000527 | Long eyelashes | |
| HP:0001513 | Obesity | |
| HP:0004322 | Short stature | |
| HP:0000664 | Synophrys | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0011951 | Aspiration pneumonia | |
| HP:0001156 | Brachydactyly | |
| HP:0006528 | Chronic lung disease | |
| HP:0002019 | Constipation | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0000365 | Hearing impairment | |
| HP:0000252 | Microcephaly | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000311 | Round face | |
| HP:0100874 | Thick hair | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0000646 | Amblyopia | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0002099 | Asthma | |
| HP:0000518 | Cataract | |
| HP:0004602 | Cervical C2/C3 vertebral fusion | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001635 | Congestive heart failure | |
| HP:0000378 | Cupped ear | |
| HP:0002212 | Curly hair | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0025313 | Exophoria | |
| HP:0009937 | Facial hirsutism | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0000293 | Full cheeks | |
| HP:0000162 | Glossoptosis | |
| HP:0000771 | Gynecomastia | |
| HP:0000218 | High palate | |
| HP:0030043 | Hip subluxation | |
| HP:0000085 | Horseshoe kidney | |
| HP:0003074 | Hyperglycemia | |
| HP:0006434 | Hypoplasia of proximal radius | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000047 | Hypospadias | |
| HP:0000821 | Hypothyroidism | |
| HP:0001601 | Laryngomalacia | |
| HP:0000343 | Long philtrum | |
| HP:0000158 | Macroglossia | |
| HP:0000347 | Micrognathia | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0000545 | Myopia | |
| HP:0000341 | Narrow forehead | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001357 | Plagiocephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003196 | Short nose | |
| HP:0010535 | Sleep apnea | |
| HP:0200055 | Small hand | |
| HP:0000486 | Strabismus | |
| HP:0001607 | Subglottic stenosis | |
| HP:0000574 | Thick eyebrow | |
| HP:0009894 | Thickened ears | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002779 | Tracheomalacia | |
| HP:0011221 | Vertical forehead creases | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0002645 | Wormian bones | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 31058441[PMID]_25730767[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/444077
- This record as JSON: /data/d/444077.json