ORPHA:319195

Chondroectodermal dysplasia with night blindness

Type: Disease
Group: Disorder
Age of onset: Infancy, Neonatal
Status: active

Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Chondroectodermal dysplasia with night blindness
fr	Dysplasie chondroectodermique avec cécité nocturne
de	Chondroektodermale Dysplasie mit Nachtblindheit
es	Displasia condroectodérmica con ceguera nocturna
it	Displasia condroectodermica con cecità notturna
nl	Chondro-ectodermale dysplasie met nachtblindheid
pt	Displasia condroectodérmica com cegueira noturna
pl	Dyspalazja chrzęstno-ektodermalna ze ślepotą nocną
cs	Chondroektodermální dysplázie s noční slepotou
uk	Хондроектодермальна дисплазія з нічною сліпотою
zh	软骨外胚层发育不良伴夜盲
tr	Gece körlüğü ile seyreden kondroektodermal displazi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q77.6	NTBT	attributed	validated
MONDO	0017869	E		validated
UMLS	C4706300	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:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		4 cases	Worldwide	Case(s)	Validated	22579605[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_22579605[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

27 annotations · validated 2016-04-11

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0006482	Abnormal dental morphology
HP:0003045	Abnormal patella morphology
HP:0001595	Abnormality of the hair
HP:0002815	Abnormality of the knee
HP:0008394	Congenital onychodystrophy
HP:0007642	Congenital stationary night blindness
HP:0002750	Delayed skeletal maturation
HP:0009926	Epiphora
HP:0002656	Epiphyseal dysplasia
HP:0008110	Equinovarus deformity
HP:0003084	Fractures of the long bones
HP:0001288	Gait disturbance
HP:0001812	Hyperconvex fingernails
HP:0030055	Hyperconvex toenail
HP:0000975	Hyperhidrosis
HP:0100255	Metaphyseal dysplasia
HP:0003025	Metaphyseal irregularity
HP:0000347	Micrognathia
HP:0008404	Nail dystrophy
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0000388	Otitis media
HP:0000926	Platyspondyly
HP:0004322	Short stature
HP:0008124	Talipes calcaneovarus
HP:0003886	Wide humerus
Occasional (29-5%)
HP:0012542	Onychauxis

Run the differential on the 12 obligate / very frequent terms

Annotation source: 22579605[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/319195
This record as JSON: /data/d/319195.json