ORPHA:363611
CTCF-related neurodevelopmental disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CTCF-related neurodevelopmental disorder | |
| fr | Trouble neurologique du développement associé à CTCF | |
| de | CTCF-assoziierte neurologische Entwicklungsstörung | |
| es | Trastorno del neurodesarrollo asociado a CTCF | |
| it | Disordine del neurosviluppo correlata a CTCF | |
| nl | CTCF-gerelateerde neurologische ontwikkelingsstoonis | |
| pt | Doença do neurodesenvolvimento CTCF-relacionada | |
| pl | Zaburzenie nerwoworozwojowe związane z CTCF | |
| cs | Syndrom zahrnující mentální retardaci, poruchy příjmu potravy, opoždění vývoje a mikrocefalii | |
| uk | Повязане з CTCF порушення нейророзвитку | |
| zh | 智力障碍-喂养困难-发育迟缓-小头畸形综合征 | |
| tr | Zihinsel yetersizlik-beslenme zorlukları-gelişme geriliği-mikrosefali sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615502 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014213 | E | validated | |
| UMLS | C4750955 | 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 |
|---|---|---|---|---|---|---|---|---|
| CTCF | Disease-causing germline mutation(s) in | Assessed | HGNC:13723 | ENSG00000102974 | 604167 | 16q22.1 | CCCTC-binding factor | 23746550[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 28619046[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28619046[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
71 annotations · validated 2019-11-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001631 | Atrial septal defect | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0000540 | Hypermetropia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000527 | Long eyelashes | |
| HP:0000675 | Macrodontia of permanent maxillary central incisor | |
| HP:0000252 | Microcephaly | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002719 | Recurrent infections | |
| HP:0001852 | Sandal gap | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001518 | Small for gestational age | |
| HP:0000486 | Strabismus | |
| HP:0000574 | Thick eyebrow | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000233 | Thin vermilion border | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0000463 | Anteverted nares | |
| HP:0000455 | Broad nasal tip | |
| HP:0006528 | Chronic lung disease | |
| HP:0000175 | Cleft palate | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001363 | Craniosynostosis | |
| HP:0000378 | Cupped ear | |
| HP:0000490 | Deeply set eye | |
| HP:0000286 | Epicanthus | |
| HP:0025116 | Fetal distress | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000348 | High forehead | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0000998 | Hypertrichosis | |
| HP:0000059 | Hypoplastic labia majora | |
| HP:0000023 | Inguinal hernia | |
| HP:0009183 | Joint contracture of the 5th finger | |
| HP:0000343 | Long philtrum | |
| HP:0000482 | Microcornea | |
| HP:0000691 | Microdontia | |
| HP:0011800 | Midface retrusion | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000341 | Narrow forehead | |
| HP:0000160 | Narrow mouth | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0000938 | Osteopenia | |
| HP:0001741 | Phimosis | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0001212 | Prominent fingertip pads | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0040223 | Pulmonary hemorrhage | |
| HP:0002783 | Recurrent lower respiratory tract infections | |
| HP:0000960 | Sacral dimple | |
| HP:0100806 | Sepsis | |
| HP:0002000 | Short columella | |
| HP:0003196 | Short nose | |
| HP:0000322 | Short philtrum | |
| HP:0002360 | Sleep abnormality | |
| HP:0000664 | Synophrys | |
Annotation source: 23746550[PMID]_28619046[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363611
- This record as JSON: /data/d/363611.json