ORPHA:45358

Congenital fibrosis of extraocular muscles

Synonyms: FEOM

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, Not applicable
Age of onset: Neonatal
Status: active

A rare syndromic disorder with strabismus characterized by congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities, among others.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenital fibrosis of extraocular muscles	FEOM
fr	Fibrose congénitale des muscles oculo-moteurs	= en
de	Extraokuläre Muskelfibrose, kongenitale
es	Fibrosis congénita de músculos extraoculares	= en
it	Fibrosi congenita dei muscoli extraoculari	= en
nl	Congenitale fibrose van extraoculaire spieren	= en
pt	Fibrose congénita dos músculos extra-oculares	= en
pl	Wrodzone zwłóknienie mięśni zewnątrzgałkowych	= en
cs	Vrozená fibróza extraokulárních svalů	= en
uk	Вроджений фіброз позаочних мязів	= en
zh	先天性广泛眼外肌纤维化综合征	= en
tr	Ekstraoküler kasların Doğumsal fibrozu	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	135700	E		validated
OMIM	600638	BTNT		validated
OMIM	602078	BTNT		validated
OMIM	609384	BTNT		validated
OMIM	609428	BTNT		validated
OMIM	609612	BTNT		validated
OMIM	616219	BTNT		validated
ICD-10	H49.8	NTBT	attributed	validated
ICD-11	9C82.2	NTBT	index	validated
MONDO	0007614	E		validated
MeSH	C580012	E		validated
UMLS	C1302995	E		validated
GARD	12590	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:97966Rare ophthalmic disorder

Parents in the classifications (5):

ORPHA:98518Congenital cranial dysinnervation disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases
ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders
ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases

No children.

Genes

6 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
COL25A1	Disease-causing germline mutation(s) in	Assessed	HGNC:18603	ENSG00000188517	610004	4q25	collagen type XXV alpha 1 chain	25500261[PMID]
KIF21A	Disease-causing germline mutation(s) in	Assessed	HGNC:19349	ENSG00000139116	608283	12q12	kinesin family member 21A	20301522[PMID]
PHOX2A	Disease-causing germline mutation(s) in	Assessed	HGNC:691	ENSG00000165462	602753	11q13.4	paired like homeobox 2A	20301522[PMID]
TUBA1A	Disease-causing germline mutation(s) in	Assessed	HGNC:20766	ENSG00000167552	602529	12q13.12	tubulin alpha 1a	33649541[PMID]
TUBB2B	Disease-causing germline mutation(s) in	Assessed	HGNC:30829	ENSG00000137285	612850	6p25.2	tubulin beta 2B class IIb	23001566[PMID]
TUBB3	Disease-causing germline mutation(s) in	Assessed	HGNC:20772	ENSG00000258947	602661	16q24.3	tubulin beta 3 class III	20301522[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	—	Europe	Class only	Validated	ORPHANET_9797671[PMID]
Point prevalence	1-9 / 1 000 000	0.43 / 100 000	United Kingdom	Value and class	Validated	9797671[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

36 annotations · validated 2023-03-23

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0030534	Abnormal best corrected visual acuity test
HP:0011347	Abnormality of ocular abduction
HP:6000709	Absent Bell phenomenon
HP:0001491	Congenital fibrosis of extraocular muscles
HP:0000577	Exotropia
HP:0000542	Impaired ocular adduction
HP:0012241	Levator palpebrae superioris atrophy
HP:0025721	Limited vertical extraocular movement
HP:0000508	Ptosis
HP:0030211	Slow pupillary light response
HP:0000486	Strabismus
Frequent (79-30%)
HP:0000512	Abnormal electroretinogram
HP:0012547	Abnormal involuntary eye movements
HP:0025309	Abnormal pupil shape
HP:0030588	Abnormal visual field test
HP:0000539	Abnormality of refraction
HP:0000646	Amblyopia
HP:0001477	Compensatory chin elevation
HP:0000616	Miosis
HP:0007831	Nonprogressive restrictive external ophthalmoplegia
Occasional (29-5%)
HP:0009916	Anisocoria
HP:0032466	Aplasia of the olfactory bulb
HP:0000518	Cataract
HP:0008527	Congenital sensorineural hearing impairment
HP:0002194	Delayed gross motor development
HP:0000565	Esotropia
HP:0009380	Finger aplasia
HP:0000044	Hypogonadotropic hypogonadism
HP:0001252	Hypotonia
HP:0001249	Intellectual disability
HP:0025186	Marcus Gunn jaw winking synkinesis
HP:0000609	Optic nerve hypoplasia
HP:0001357	Plagiocephaly
HP:0002126	Polymicrogyria
HP:0000473	Torticollis
HP:0002013	Vomiting

Run the differential on the 11 obligate / very frequent terms

Annotation source: 24940936[PMID]_15671279[PMID]_16815872[PMID]_36360333[PMID]_18214786[PMID]_26639658[PMID]_15863670[PMID]_23378218[PMID]_23001566[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/45358
This record as JSON: /data/d/45358.json