Global developmental delay-osteopenia-ectodermal defect syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- active
A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-osteopenia-ectodermal defect syndrome | |
| fr | Syndrome de retard de développement-ostéopénie-anomalies ectodermiques | |
| de | Allgemeine Entwicklungsverzögerung-Osteopenie-ektodermaler Defekt-Syndrom | |
| es | Síndrome de retraso global del desarrollo-osteopenia-defecto ectodérmico | |
| it | Sindrome ritardo dello sviluppo globale-osteopenia-difetti ectodermici | |
| nl | Algehele ontwikkelingsachterstand - osteopenie - ectodermaal defect-syndroom | |
| pt | Perturbação do desenvolvimento global-osteopenia-anomalias ectodérmicas | |
| pl | Opóźnienie rozwoju - osteopenia - defekt ektodermalny | |
| cs | Syndrom zahrnující opožděný vývoj, osteopenii a ektodermální defekt | |
| uk | Синдром глобальної затримки розвитку-остеопенії-ектодермального дефекту | |
| zh | 全身发育迟缓-骨质疏松-外胚层缺陷综合征 | |
| tr | Yaygın gelişme geriliği-osteopeni-ektodermal defekt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0019129 | E | validated | |
| UMLS | C4303570 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 16368207[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16368207[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.
HPO phenotypes
39 annotations · validated 2019-03-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0011125 | Abnormality of dermal melanosomes | |
| HP:0010719 | Abnormality of hair texture | |
| HP:0000718 | Aggressive behavior | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0007483 | Depigmentation/hyperpigmentation of skin | |
| HP:0011368 | Epidermal thickening | |
| HP:0003127 | Hypocalciuria | |
| HP:0007387 | Hypoplastic sweat glands | |
| HP:0100710 | Impulsivity | |
| HP:0001382 | Joint hypermobility | |
| HP:0025080 | Orthokeratotic hyperkeratosis | |
| HP:0000938 | Osteopenia | |
| HP:0000736 | Short attention span | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0002353 | EEG abnormality | |
| Occasional (29-5%) | ||
| HP:0000337 | Broad forehead | |
| HP:0040022 | Clinodactyly of the 2nd finger | |
| HP:0040025 | Clinodactyly of the 4th finger | |
| HP:0011065 | Conical incisor | |
| HP:0000689 | Dental malocclusion | |
| HP:0012520 | Dilation of Virchow-Robin spaces | |
| HP:0000286 | Epicanthus | |
| HP:0003307 | Hyperlordosis | |
| HP:0012365 | Hypophosphaturia | |
| HP:0011074 | Localized hypoplasia of dental enamel | |
| HP:0000343 | Long philtrum | |
| HP:0001593 | Maxillary lateral incisor microdontia | |
| HP:0000347 | Micrognathia | |
| HP:0001653 | Mitral regurgitation | |
| HP:0011220 | Prominent forehead | |
| HP:0003691 | Scapular winging | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0000233 | Thin vermilion border | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 16368207[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/73223
- This record as JSON: /data/d/73223.json