ORPHA:93271

Short rib-polydactyly syndrome, Verma-Naumoff type

Synonyms: Short rib-polydactyly syndrome type 3

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

A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Short rib-polydactyly syndrome, Verma-Naumoff type	Short rib-polydactyly syndrome type 3
fr	Syndrome des côtes courtes-polydactylie type Verma-Naumoff	Syndrome des côtes courtes-polydactylie type 3
de	Kurzrippen-Polydaktylie-Syndrom Typ Verma-Naumoff	Kurzrippen-Polydaktylie-Syndrom Typ 3
es	Síndrome de polidactilia y costillas cortas tipo Verma-Naumoff	Síndrome de polidactilia y costillas cortas tipo 3
it	Sindrome costa corta-polidattilia, tipo Verma-Naumoff	Sindrome costa corta-polidattilia, tipo 3
nl	Korte rib - polydactylie-syndroom, Verma-Naumoff-type	Korte rib - polydactylie-syndroom type 3
pt	Síndrome costelas curtas-polidactilia, tipo Verma-Naumoff	Síndrome costelas curtas-polidactilia tipo 3
pl	Zespół krótkie żebro-polidaktylia typu Vermy i Naumoffa	Zespół krótkie żebro-polidaktylia typu 3
cs	Syndrom zahrnující krátká žebra a polydaktylii, Vermaův-Naumoffův typ	Syndrom zahrnující krátká žebra a polydaktylii, typ 3 · Syndrom zahrnující krátká žebra a polydaktylii, Verma-Naumoffův typ
uk	Синдром короткореберної полідактилії, тип Верма-Наумова	Синдром полідактилії з короткими ребрами, тип 3
zh	短肋-多指综合征，Verma-Naumoff型	短肋-多指综合征3型
tr	Kısa kaburga-polidaktili sendromu, Verma-Naumoff tipi	Kısa kaburga-polidaktili sendromu tip 3

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	613091	BTNT		validated
OMIM	614091	BTNT		validated
OMIM	615503	BTNT		validated
OMIM	615633	BTNT		validated
ICD-10	Q77.2	NTBT	attributed	validated
ICD-11	LD24.B0	NTBT	index	validated
MeSH	C537602	E		validated
UMLS	C0432197	E		validated
GARD	4835	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 (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

5 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]_19442771[PMID]
DYNC2I1	Disease-causing germline mutation(s) in	Assessed	HGNC:21862	ENSG00000126870	615462	7q36.3	dynein 2 intermediate chain 1	23910462[PMID]
DYNC2I2	Disease-causing germline mutation(s) in	Assessed	HGNC:28296	ENSG00000119333	613363	9q34.11	dynein 2 intermediate chain 2	24183449[PMID]
IFT80	Disease-causing germline mutation(s) in	Assessed	HGNC:29262	ENSG00000068885	611177	3q25.33	intraflagellar transport 80	22791528[PMID]_19648123[PMID]
WDR35	Disease-causing germline mutation(s) in	Assessed	HGNC:29250	ENSG00000118965	613602	2p24.1	WD repeat domain 35	21473986[PMID]_22791528[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 100 000	5.2 / 100 000	United Arab Emirates	Value and class	Validated	12769508[PMID]
Point prevalence	<1 / 1 000 000	—	United Arab Emirates	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

47 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003270	Abdominal distention
HP:0000944	Abnormal metaphysis morphology
HP:0009106	Abnormal pelvis bone ossification
HP:0008873	Disproportionate short-limb short stature
HP:0005716	Lethal skeletal dysplasia
HP:0002983	Micromelia
HP:0000774	Narrow chest
HP:0002093	Respiratory insufficiency
HP:0001773	Short foot
HP:0004279	Short palm
HP:0000773	Short ribs
HP:0010306	Short thorax
Frequent (79-30%)
HP:0030680	Abnormal cardiovascular system morphology
HP:0004599	Absent or minimally ossified vertebral bodies
HP:0000062	Ambiguous genitalia
HP:0000204	Cleft upper lip
HP:0002612	Congenital hepatic fibrosis
HP:0000028	Cryptorchidism
HP:0005280	Depressed nasal bridge
HP:0000286	Epicanthus
HP:0002007	Frontal bossing
HP:0000126	Hydronephrosis
HP:0001789	Hydrops fetalis
HP:0008736	Hypoplasia of penis
HP:0000343	Long philtrum
HP:0000256	Macrocephaly
HP:0000347	Micrognathia
HP:0001162	Postaxial hand polydactyly
HP:0000089	Renal hypoplasia
HP:0008716	Urethrovaginal fistula
HP:0003762	Uterus didelphys
HP:0000445	Wide nose
Occasional (29-5%)
HP:0001274	Agenesis of corpus callosum
HP:0002023	Anal atresia
HP:0010564	Bifid epiglottis
HP:0010297	Bifid tongue
HP:0000518	Cataract
HP:0001321	Cerebellar hypoplasia
HP:0001305	Dandy-Walker malformation
HP:0004397	Ectopic anus
HP:0002032	Esophageal atresia
HP:0002006	Facial cleft
HP:0001539	Omphalocele
HP:0001177	Preaxial hand polydactyly
HP:0002089	Pulmonary hypoplasia
HP:0000107	Renal cyst
HP:0002119	Ventriculomegaly

Run the differential on the 12 obligate / very frequent terms

Annotation source: 16113563[PMID]_11316927[PMID]_ISBN:0195214749[OTHER]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/93271
This record as JSON: /data/d/93271.json