Short rib-polydactyly syndrome, Saldino-Noonan type
Synonyms: Short rib-polydactyly syndrome type 1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short rib-polydactyly syndrome, Saldino-Noonan type | Short rib-polydactyly syndrome type 1 |
| fr | Syndrome des côtes courtes-polydactylie type Saldino-Noonan | Syndrome des côtes courtes-polydactylie type 1 |
| de | Kurzrippen-Polydaktylie-Syndrom Typ Saldino-Noonan | Kurzrippen-Polydaktylie-Syndrom Typ 1 |
| es | Síndrome de costillas cortas-polidactilia tipo Saldino-Noonan | Síndrome de polidactilia y costillas cortas tipo 1 |
| it | Sindrome costa corta-polidattilia, tipo Saldino-Noonan | Sindrome costa corta-polidattilia, tipo 1 |
| nl | Korte rib - polydactylie-syndroom, Saldino-Noonan-type | Korte rib - polydactylie-syndroom type 1 |
| pt | Síndrome costelas curtas-polidactilia, tipo Saldino-Noonan | Síndrome costelas curtas-polidactilia tipo 1 |
| pl | Zespół krótkie żebro-polidaktylia typu Saldino i Noonan | Zespół krótkie żebro-polidaktylia typu 1 |
| cs | Syndrom zahrnující krátká žebra a polydaktylii, Saldinův-Noonanův typ | Syndrom zahrnující krátká žebra a polydaktylii, typ 1 · Syndrom zahrnující krátká žebra a polydaktylii, Saldino-Noonanův typ |
| uk | Синдром короткореберної полідактилії, тип Сальдіно-Нунан | Синдром полідактилії з короткими ребрами, тип 1 |
| zh | 短肋-多指综合征，Saldino-Noonan型 | 短肋-多指综合征1型 |
| tr | Kısa kaburga-polidaktili sendromu, Saldino-Noonan tipi | Kısa kaburga-polidaktili sendromu tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613091 | NTBT | validated | |
| ICD-10 | Q77.2 | NTBT | attributed | validated |
| ICD-11 | LD24.B0 | NTBT | index | validated |
| UMLS | C0036069 | E | validated | |
| GARD | 4834 | 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:1505Short rib-polydactyly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare respiratory diseases; rare bone diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYNC2H1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2962 | ENSG00000187240 | 603297 | 11q22.3 | dynein cytoplasmic 2 heavy chain 1 | 27925158[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 23456818[PMID]_27925158[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 23456818[PMID]_27925158[PMID]_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/93270
- This record as JSON: /data/d/93270.json