ORPHA:459061
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Synonyms: Developmental delay-short stature-dysmorphic features-sparse hair syndrome · Loucks-Innes syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | Developmental delay-short stature-dysmorphic features-sparse hair syndrome · Loucks-Innes syndrome |
| fr | Syndrome de dysplasie craniofaciale-petite taille-anomalies ectodermiques-déficience intellectuelle | Syndrome de Loucks-Innes |
| de | Kraniofaziale Dysplasie-Kleinwuchs-ektodermale Anomalien-Intelligenzminderung-Syndrom | Entwicklungsverzögerung-Kleinwuchs-dysmorphe Merkmale-spärliches Haar-Syndrom · Loucks-Innes-Syndrom |
| es | Síndrome de displasia craneofacial-talla baja-anomalías ectodérmicas-discapacidad intelectual | Síndrome de Loucks-Innes · Síndrome de retraso del desarrollo-talla baja-rasgos dismórficos-cabello escaso |
| it | Sindrome displasia craniofacciale-bassa statura-anomalie ectodermiche-disabilità intellettiva | Sindrome ritardo dello sviluppo-bassa statura-caratteristiche dismorfiche-capigliatura rada · Sindrome Loucks-Innes |
| nl | Craniofaciale dysplasie - kleine gestalte - ectodermale anomalieën - intellectuele achterstand-syndroom | Ontwikkelingsachterstand - kleine gestalte - dysmorfe kenmerken - schaars haar-syndroom · Syndroom van Loucks-Innes |
| pt | Síndrome de displasia craniofacial-baixa estatura-anomalias ectodérmicas-perturbação do desenvolvimento intelectual | Síndrome Loucks-Innes · Síndrome de perturbação do desenvolvimento-baixa estaura-dismorfia-cabelo ralo |
| pl | Zespół dysplazji czaszkowo-twarzowej, niskiego wzrostu, anomalii ektodermalnych i niepełnosprawności intelektualnej | Zespół opóźnienia rozwoju, niskiego wzrostu, cech dysmorficznych i rzadkich włosów |
| cs | Syndrom zahrnující kraniofaciální dysmorfismus, malý vzrůst, anomálie ektodermu a mentální retardaci | = en |
| uk | Синдром черепно-лицьової дисплазії-низькорослості-ектодермальних аномалій-інтелектуальної недостатності | Синдром затримки розвитку - низькорослості - дисморфних рис - рідкого волосся · Синдром Лукса-Іннеса |
| zh | 颅面发育不良-身材矮小-外胚层异常-智力障碍综合征 | 发育延迟-身材矮小-畸形特征-头发稀疏综合症 |
| tr | Kraniyofasiyal displazi-kısa boy-ektodermal anomaliler-zihinsel yetersizlik sendromu | Gelişme geriliği-kısa boy-dismorfik özellikler-seyrek saç sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616901 | BTNT | validated | |
| OMIM | 620062 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 800438 | E | validated | |
| UMLS | C4310801 | 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:93453Dysostosis with predominant craniofacial involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - 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
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DPH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3003 | ENSG00000108963 | 603527 | 17p13.3 | diphthamide biosynthesis 1 | 26220823[PMID] |
| DPH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3004 | ENSG00000132768 | 603456 | 1p34.1 | diphthamide biosynthesis 2 | 32576952[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 26220823[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26220823[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
40 annotations · validated 2019-12-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001263 | Global developmental delay | |
| HP:0011220 | Prominent forehead | |
| HP:0004322 | Short stature | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002209 | Sparse scalp hair | |
| Frequent (79-30%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0012385 | Camptodactyly | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000238 | Hydrocephalus | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001763 | Pes planus | |
| HP:0007291 | Posterior fossa cyst | |
| HP:0000243 | Trigonocephaly | |
| Occasional (29-5%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000739 | Anxiety | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000248 | Brachycephaly | |
| HP:0000175 | Cleft palate | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000805 | Enuresis | |
| HP:0000286 | Epicanthus | |
| HP:0000316 | Hypertelorism | |
| HP:0000023 | Inguinal hernia | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0012712 | Mild hearing impairment | |
| HP:0004482 | Relative macrocephaly | |
| HP:0004442 | Sagittal craniosynostosis | |
| HP:0030799 | Scaphocephaly | |
| HP:0001250 | Seizure | |
| HP:0010535 | Sleep apnea | |
| HP:0200055 | Small hand | |
| HP:0001970 | Tubulointerstitial nephritis | |
| HP:0000687 | Widely spaced teeth | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29362492[PMID]_29410513[PMID]_26220823[PMID]_25558065[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/459061
- This record as JSON: /data/d/459061.json