Hydrocephaly-tall stature-joint laxity syndrome
historical
Synonyms: Daish-Hardman-Lamont syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- historical
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydrocephaly-tall stature-joint laxity syndrome | Daish-Hardman-Lamont syndrome |
| fr | Syndrome d'hydrocéphalie-grande taille-hyperlaxité | Syndrome de Daish-Hardman-Lamont |
| de | Hydrozephalus-Hochwuchs-Gelenklaxität-Syndrom | Daish-Hardman-Lamont-Syndrom |
| es | Síndrome de hidrocefalia-talla alta-hiperlaxitud | |
| it | Idrocefalo - alta statura - iperlassità | Sindrome di Daish-Hardman-Lamont |
| nl | Hydrocefalie - grote gestalte - gewrichtslaxiteit-syndroom | Syndroom van Daish-Hardman-Lamont |
| pt | Síndrome de hidrocefalia-estatura elevada-hipermobilidade articular | Síndrome Daish-Hardman-Lamont |
| pl | Wodogłowie - wysoki wzrost - wiotkość stawów | Zespół Daisha, Hardmana i Lamonta |
| cs | Syndrom zahrnující hydrocefalus, vysoký vzrůst a nadměrnou kloubní volnost | Daishův-Hardmanův-Lamontův syndrom · Daish-Hardman-Lamontův syndrom |
| uk | Синдром гідроцефалії-високого зросту-слабкості суглобів | Синдром Дайша-Хардмана-Ламонта |
| zh | 脑积水-高身材-关节松弛综合征 | Daish-Hardman-Lamont综合征 |
| tr | Hidrosefali-uzun boy-eklem gevşekliği sendromu | Daish-Hardman-Lamont sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236660 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009363 | E | validated | |
| MeSH | C535770 | E | validated | |
| UMLS | C1856051 | E | validated | |
| GARD | 1666 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 2 cases | Worldwide | Case(s) | Validated | 2918526[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2918526[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
15 annotations · validated 2017-11-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0001166 | Arachnodactyly | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0000238 | Hydrocephalus | |
| HP:0001382 | Joint hypermobility | |
| HP:0002808 | Kyphosis | |
| HP:0000098 | Tall stature | |
| Frequent (79-30%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0002007 | Frontal bossing | |
| HP:0001288 | Gait disturbance | |
| HP:0002301 | Hemiplegia | |
| HP:0002705 | High, narrow palate | |
| HP:0002650 | Scoliosis | |
| HP:0003834 | Shoulder dislocation | |
| HP:0001537 | Umbilical hernia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2181
- This record as JSON: /data/d/2181.json