ORPHA:93269

Short rib-polydactyly syndrome, Majewski type

Synonyms: Short rib-polydactyly syndrome type 2

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Antenatal, Neonatal
Status: active

A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Short rib-polydactyly syndrome, Majewski type	Short rib-polydactyly syndrome type 2
fr	Syndrome des côtes courtes-polydactylie type Majewski	Syndrome des côtes courtes-polydactylie type 2
de	Kurzrippen-Polydaktylie-Syndrom Typ Majewski	Kurzrippen-Polydaktylie-Syndrom Typ 2
es	Síndrome de polidactilia y costillas cortas tipo Majewski	Síndrome de polidactilia y costillas cortas tipo 2
it	Sindrome costa corta-polidattilia tipo Majewski	Sindrome costa corta-polidattilia, tipo 2
nl	Korte rib - polydactylie-syndroom, Majewski-type	Korte rib - polydactylie-syndroom type 2
pt	Síndrome costelas curtas-polidactilia, tipo Majewski	Síndrome costelas curtas-polidactilia tipo 2
pl	Zespół krótkie żebro-polidaktylia typu Majewskiego	Zespół krótkie żebro-polidaktylia typu 2
cs	Syndrom zahrnující krátká žebra a polydaktylii, Majewského typ	Syndrom zahrnující krátká žebra a polydaktylii, typ 2
uk	Синдром короткореберної полідактилії, тип Маєвського	Синдром полідактилії з короткими ребрами, тип 2
zh	短肋-多指综合征，Majewski型	短肋-多指综合征2型
tr	Kısa kaburga-polidaktili sendromu, Majewski tipi	Kısa kaburga-polidaktili sendromu tip 2

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	263520	BTNT		validated
OMIM	613091	BTNT		validated
ICD-10	Q77.2	NTBT	attributed	validated
ICD-11	LD24.B0	NTBT	index	validated
MONDO	0019662	E		validated
UMLS	C0024507	E		validated
GARD	4833	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):

ORPHA:93419Rare bone disease

Parents in the classifications (1):

ORPHA:1505Short rib-polydactyly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare respiratory diseases; rare bone diseases

No children.

Genes

3 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	22791528[PMID]_21211617[PMID]_22499340[PMID]
IFT54	Disease-causing germline mutation(s) in	Assessed	HGNC:17861	ENSG00000204104	607380	2q37.3	intraflagellar transport 54	29068549[PMID]
NEK1	Disease-causing germline mutation(s) in	Assessed	HGNC:7744	ENSG00000137601	604588	4q33	NIMA related kinase 1	22791528[PMID]_22499340[PMID]_21211617[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		34 cases	Worldwide	Case(s)	Validated	20607029[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_20607029[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

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/93269
This record as JSON: /data/d/93269.json