ORPHA:1797

Autosomal dominant spondylocostal dysostosis

Synonyms: Autosomal dominant spondylocostal dysplasia

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: No data available
Status: active

A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant spondylocostal dysostosis	Autosomal dominant spondylocostal dysplasia
fr	Dysostose spondylo-costale autosomique dominante	Dysplasie spondylo-costale autosomique dominante
de	Dysostose, spondylokostale, autosomal-dominante
es	Disostosis espondilocostal forma dominante
it	Disostosi spondilocostale autosomica dominante
nl	Autosomaal dominante spondylocostale dysostose	Autosomaal dominante spondylocostale dysplasie
pt	Disostose espondilo-costal autossómica dominante	Displasia espondilo-costal dominante
pl	Autosomalna dominująca dyzostoza kręgowo-żebrowa	Autosomalna dominująca dysplazja kręgowo-żebrowa
cs	Autozomálně dominantní spondylokostální dysostóza	Autozomálně dominantní spondylokostální dysplázie
uk	Аутосомно-домінантний спондилокостальний дизостоз	Аутосомно-домінантна спондилокостальна дисплазія
zh	常染色体显性遗传脊椎肋骨发育不全	常染色体显性遗传性脊椎肋骨发育不全
tr	Otozomal dominant spondilokostal disostoz	Otozomal dominant spondilokostal displazi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	122600	NTBT		validated
ICD-10	Q76.4	NTBT	attributed	validated
ICD-11	LD24.H	NTBT	index	validated
MONDO	0015826	E		validated
UMLS	C4274761	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:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TBX6	Disease-causing germline mutation(s) in	Assessed	HGNC:11605	ENSG00000149922	602427	16p11.2	T-box transcription factor 6	23335591[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet 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

22 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001511	Intrauterine growth retardation
HP:0002650	Scoliosis
HP:0003510	Severe short stature
HP:0003422	Vertebral segmentation defect
Frequent (79-30%)
HP:0000463	Anteverted nares
HP:0003307	Hyperlordosis
HP:0000269	Prominent occiput
HP:0000470	Short neck
HP:0010306	Short thorax
HP:0000582	Upslanted palpebral fissure
HP:0000431	Wide nasal bridge
Occasional (29-5%)
HP:0030680	Abnormal cardiovascular system morphology
HP:0000008	Abnormal morphology of female internal genitalia
HP:0000772	Abnormal rib morphology
HP:0005107	Abnormal sacrum morphology
HP:0000175	Cleft palate
HP:0000256	Macrocephaly
HP:0000252	Microcephaly
HP:0000921	Missing ribs
HP:0000913	Posterior rib fusion
HP:0002205	Recurrent respiratory infections
HP:0003298	Spina bifida occulta

Run the differential on the 4 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/1797
This record as JSON: /data/d/1797.json