Tall stature-long halluces-multiple extra-epiphyses syndrome
Synonyms: Tall stature-scoliosis-macrodactyly of the halluces syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tall stature-long halluces-multiple extra-epiphyses syndrome | Tall stature-scoliosis-macrodactyly of the halluces syndrome |
| fr | Syndrome de grande taille-gros orteils longs-épiphyses surnuméraires multiples | |
| de | Hochwuchs-lange Großzehen-multiple zusätzliche Epiphysen-Syndrom | Hochwuchs-Skoliose-Makrodaktylie der Großzehen-Syndrom |
| es | Síndrome de talla alta-halluces largos-extra epífisis múltiple | Síndrome de talla alta-dedos gordos del pie largos-extra epífisis múltiple · Síndrome de talla alta-escoliosis-macrodactilia de los dedos gordos del pie |
| it | Sindrome alta statura-alluci allungati-epifisi multiple in sovrannumero | Sindrome da alta statura-scoliosi-macrodattilia degli alluci |
| nl | Grote gestalte - lange halluces - multipele extra epifysen-syndroom | Grote gestalte - scoliose - macrodactylie van hallux-syndroom |
| pt | Síndrome de estatura elevada-háluces longos-extra-epífises múltiplas | Síndrome de estatura elevada-escoliose-macrodactilia dos háluces |
| pl | Wysoki wzrost - skolioza - makrodaktylia dużych palców stóp | Wysoki wzrost - skolioza - makrodaktylia paluchów · Zespół wysokiego wzrostu, długich paluchów, mnogich dodatkowych nasad kości |
| cs | Syndrom zahrnující vysoký vzrůst, dlouhé palce na nohách a nadpočetné epifýzy | = en |
| uk | Синдром високорослості-довгих великих пальців-множинних екстраепіфізів | Синдром високого зросту-сколіозу-макродактилії |
| zh | 身材高大-脊柱侧凸-巨趾综合征 | 身材高大-脊柱侧凸-拇趾巨趾综合征 |
| tr | Uzun boy-skolyoz-büyük ayak başparmağı makrodaktilisi sendromu | Uzun boy- skolyoz-halluks sendromunun makrodaktilisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615923 | BTNT | validated | |
| OMIM | 619543 | BTNT | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0014401 | E | validated | |
| UMLS | C4749503 | 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:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NPR2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:7944 | ENSG00000159899 | 108961 | 9p13.3 | natriuretic peptide receptor 2 | 22870295[PMID] |
| NPR3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7945 | ENSG00000113389 | 108962 | 5p13.3 | natriuretic peptide receptor 3 | 30032985[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 22870295[PMID]_23243086[PMID]_24259409[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329191
- This record as JSON: /data/d/329191.json