Childhood disintegrative disorder
Synonyms: Dementia infantilis · Heller syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood disintegrative disorder | Dementia infantilis · Heller syndrome |
| fr | Syndrome désintégratif de l'enfance | Démence infantile · Syndrome de Heller |
| de | Desintegrative Störung der Kindheit | Dementia Infantilis · Heller-Syndrom |
| es | Trastorno desintegrativo infantil | Demencia infantil · Dementia infantilis · Síndrome de Heller |
| it | Disturbo disintegrativo dell'infanzia | Demenza infantile · Sindrome di Heller |
| nl | Desintegratiestoornis in de kindertijd | Dementia infantilis · Syndroom van Heller |
| pt | Doença desintegrativa infantil | |
| pl | Dziecięce zaburzenie dezintegracyjne | Demencja dziecięca · Zespół Hellera |
| cs | Dětská dezintegrační porucha | Infantilní demence · Hellerův syndrom |
| uk | Дитячий дезінтеграційний розлад | Дитяча деменція · Синдром Геллера |
| zh | 儿童期精神分裂症 | 婴儿痴呆 |
| tr | Çocukluk dönemi dezintegratif bozukluğu | Heller sendromu · Demans infantilis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | F84.3 | E | specific | validated |
| ICD-11 | 6A02.3 | NTBT | index | validated |
| MONDO | 0015681 | E | validated | |
| UMLS | C0236791 | E | validated | |
| GARD | 6040 | E | validated | |
| MedDRA | 10008522 | 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 (1):
- ORPHA:168778Rare pervasive developmental disorder
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Not yet 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.
HPO phenotypes
16 annotations · validated 2018-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100851 | Abnormal emotion/affect behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0001268 | Mental deterioration | |
| HP:0007064 | Progressive language deterioration | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0001344 | Absent speech | |
| HP:0000739 | Anxiety | |
| HP:0002607 | Bowel incontinence | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0007086 | Social and occupational deterioration | |
| HP:0000020 | Urinary incontinence | |
| Occasional (29-5%) | ||
| HP:0000726 | Dementia | |
| HP:0002376 | Developmental regression | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002333 | Motor deterioration | |
| Very rare (<4-1%) | ||
| HP:0001250 | Seizure | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 28392909[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168782
- This record as JSON: /data/d/168782.json