ORPHA:935
Short-limb skeletal dysplasia with severe combined immunodeficiency
Synonyms: Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome · Achondroplasia-severe combined immunodeficiency syndrome · Immunodeficiency-short limb dwarfism syndrome · Short limb skeletal dysplasia with SCID
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short-limb skeletal dysplasia with severe combined immunodeficiency | Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome · Achondroplasia-severe combined immunodeficiency syndrome · Immunodeficiency-short limb dwarfism syndrome · Short limb skeletal dysplasia with SCID |
| fr | Syndrome de dysplasie osseuse à membres courts-déficit immunitaire combiné sévère | Syndrome d'achondroplasie-DICS · Syndrome d'achondroplasie-IDCS · Syndrome d'achondroplasie-SCID · Syndrome d'achondroplasie-agammaglobulinémie type suisse · Syndrome d'achondroplasie-déficit immunitaire combiné sévère · Syndrome d'achondroplasie-immunodéficience combinée sévère · Syndrome de dysplasie osseuse à membres courts-DICS · Syndrome de dysplasie osseuse à membres courts-IDCS · Syndrome de dysplasie osseuse à membres courts-SCID · Syndrome de dysplasie osseuse à membres courts-immunodéficience combinée sévère · Syndrome de déficit immunitaire-nanisme à membres courts |
| de | Skelettdysplasie mit verkürzten Extremitäten und schwerem kombinierten Immundefekt | Achondroplasie mit Agammaglobulinämie vom Schweizer Typ · Achondroplasie-SCID-Syndrom · Achondroplasie-schwerer kombinierter Immundefekt-Syndrom · Skelettdysplasie mit verkürzten Extremitäten und SCID |
| es | Displasia esquelética de las extremidades cortas con inmunodeficiencia combinada grave | Displasia esquelética de extremidades cortas con IDCG · Displasia esquelética de extremidades cortas con SCID · Síndrome de acondroplasia-IDCG · Síndrome de acondroplasia-SCID · Síndrome de acondroplasia-agammaglobulinemia tipo suizo · Síndrome de acondroplasia-inmunodeficiencia combinada grave · Síndrome de inmunodeficiencia-enanismo de extremidades cortas |
| it | Displasia scheletrica con arti corti e immunodeficienza combinata grave | Displasia scheletrica ad arti corti con SCID · Sindrome acondroplasia-SCID · Sindrome acondroplasia-agammaglobulinemia tipo svizzero · Sindrome acondroplasia-immunodeficienza combinata grave · Sindrome immunodeficienza-nanismo con arti corti |
| nl | Skeletdysplasie met korte ledematen en met ernstige gecombineerde immuundeficiëntie | Achondroplasie - SCID-syndroom · Achondroplasie - Zwitsers type agammaglobulinemie-syndroom · Achondroplasie - ernstige gecombineerde immuundeficiëntie-syndroom · Immuundeficiëntie - dwerggroei met korte ledematen-syndroom |
| pt | Displasia esquelética de membros curtos com imunodeficiência combinada grave | Displasia esquelética de membros curtos com SCID · Síndrome de acondroplasia-SCID · Síndrome de acondroplasia-agamaglobulinemia tipo Suíço · Síndrome de acondroplasia-imunodeficiência combinada grave · Síndrome de imunodeficiência-nanismo de membros curtos |
| pl | Dysplazja szkieletowa krótkich kończyn z ciężkim złożonym niedoborem odporności | Dysplazja szkieletowa krótkich kończyn z SCID · Zespół achondroplazji i agammaglobulinemii typu szwajcarskiego · Zespół achondroplazji i ciężkiego złożonego niedoboru odporności · Zespół achondroplazji i SCID · Zespół niedoboru odporności i niskorosłości krótkokończynowej |
| cs | Skeletální dysplázie končetin s těžkou kombinovanou imunodeficiencí | Syndrom zahrnující achondroplázii a SCID · Syndrom zahrnující achondroplázii a švýcarský typ agamaglobulinémie · Syndrom zahrnující achondroplázii a těžkou kombinovanou imunodeficienci · Syndrom zahrnující imunodeficienci a trpaslictví s krátkými končetinami · Skeletální dysplázie s krátkými končetinami a SCID |
| uk | Дисплазія скелету з вкороченням кінцівок та важким комбінованим імунодефіцитом | Синдром ахондроплазії-ТКІД · Ахондроплазія - синдром тяжкого комбінованого імунодефіциту · Синдром агаммаглобулінемії швейцарського типу при ахондроплазії · Синдром імунодефіцитної карликовості з короткими кінцівками · Дисплазія скелета коротких кінцівок з SCID |
| zh | 短肢骨骼发育不良伴严重联合免疫缺陷 | 软骨发育不全-Swiss型无丙种球蛋白血症综合征 |
| tr | Ağır kombine immun yetmezliği olan kısa ekstremite iskelet displazisi | Akondroplazi-SCID sendromu · SCID ile kısa ekstremite iskelet displazisi · İmmün yetmezlik-kısa ekstremite cücelik sendromu · Akondroplazi-İsviçre tipi agamaglobulinemi sendromu · Akondroplazi-ağır kombine immün yetmezlik sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200900 | E | validated | |
| ICD-10 | D82.2 | E | specific | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0008704 | E | validated | |
| MeSH | C565984 | E | validated | |
| UMLS | C1860168 | E | validated | |
| GARD | 2988 | 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 (1):
- ORPHA:317419T-B- severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 1999827[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1999827[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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005374 | Cellular immunodeficiency | |
| HP:0001888 | Lymphopenia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0004430 | Severe combined immunodeficiency | |
| Frequent (79-30%) | ||
| HP:0004432 | Agammaglobulinemia | |
| HP:0004422 | Biparietal narrowing | |
| HP:0002213 | Fine hair | |
| HP:0004349 | Reduced bone mineral density | |
| Occasional (29-5%) | ||
| HP:0001732 | Abnormality of the pancreas | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001903 | Anemia | |
| HP:0100543 | Cognitive impairment | |
| HP:0000023 | Inguinal hernia | |
| HP:0003085 | Long fibula | |
| HP:0002024 | Malabsorption | |
| HP:0000767 | Pectus excavatum | |
| HP:0011364 | White hair | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/935
- This record as JSON: /data/d/935.json