ORPHA:35093

Non-syndromic sagittal craniosynostosis

Synonyms: Isolated sagittal craniosynostosis · Isolated scaphocephaly · Non-syndromic sagittal suture synostosis

Type: Morphological anomaly
Group: Disorder
Inheritance: Autosomal dominant, Not applicable
Age of onset: Infancy, Neonatal
Status: active

A form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Non-syndromic sagittal craniosynostosis	Isolated sagittal craniosynostosis · Isolated scaphocephaly · Non-syndromic sagittal suture synostosis
fr	Craniosynostose sagittale non syndromique	Craniosynostose sagittale isolée · Scaphocéphalie isolée
de	Sagittalnaht-Synostose, nicht-syndromale	Isolierte sagittale Kraniosynostose · Nicht-syndromale Synostose der Sagittalnaht · Skaphozephalie, isolierte
es	Craneosinostosis sagital no sindrómica	Craneosinostosis sagital aislada · Escafocefalia aislada · Sinostosis de la sutura sagital no sindrómica
it	Craniosinostosi sagittale non sindromica	Craniosinostosi sagittale isolata · Scafocefalia isolata · Sinostosi non sindromica della sutura sagittale
nl	Niet-syndromale sagittale craniosynostose	Geïsoleerde sagittale craniosynostose · Geïsoleerde scafocefalie · Niet-syndromale synostose van pijlnaad · Niet-syndromale synostose van sutura sagittalis
pt	Craniossinostose sagital não-sindromática	Craniossinostose sagital isolada · Escafocefalia isolada · Sinostose da sutura sagital não-sindromática
pl	Skafocefalia izolowana	Dolichocefalia izolowana · Niesyndromiczna synostoza strzałkowa
cs	Izolovaná skafocefalie	Izolovaná dolichocefalie · Nesyndromická sagitální synostóza
uk	Несиндромний сагітальний краніосиностоз	Ізольований сагітальний краніосиностоз · Ізольована скафоцефалія · Несиндромний синостоз сагітального шва
zh	孤立型舟状头	非综合征性矢状缝骨性融合症
tr	İzole skafosefali	İzole dolikosefali · Sendromik olmayan sagital sinostoz

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	123100	BTNT		validated
OMIM	615529	BTNT		validated
ICD-10	Q75.0	NTBT	attributed	validated
ICD-11	LB70.0Y	NTBT	index	validated
MONDO	0018112	E		validated
UMLS	C5680150	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 (2):

ORPHA:98684Craniostenosis with strabismus
rare genetic diseases; rare ophthalmic disorders
ORPHA:620096Non-syndromic unisutural craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TWIST1	Disease-causing germline mutation(s) in	Assessed	HGNC:12428	ENSG00000122691	601622	7p21.1	twist family bHLH transcription factor 1	17343269[PMID]
ALX4	Major susceptibility factor in	Assessed	HGNC:450	ENSG00000052850	605420	11p11.2	ALX homeobox 4	22829454[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-5 / 10 000	20.7 / 100 000	Australia	Value and class	Validated	34626670[PMID]_ORPHANET
Prevalence at birth	1-5 / 10 000	20.7 / 100 000	Australia	Value and class	Validated	34626670[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

4 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000268	Dolichocephaly
Occasional (29-5%)
HP:0002007	Frontal bossing
HP:0002516	Increased intracranial pressure
HP:0000269	Prominent occiput

Run the differential on the 1 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/35093
This record as JSON: /data/d/35093.json