Chondroectodermal dysplasia with night blindness

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000388 Otitis media Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0000938 Osteopenia Very frequent (99-80%)
HP:0000939 Osteoporosis Very frequent (99-80%)
HP:0000975 Hyperhidrosis Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0001595 Abnormal hair morphology Very frequent (99-80%)
HP:0001812 Hyperconvex fingernails Very frequent (99-80%)
HP:0002355 Difficulty walking Very frequent (99-80%)
HP:0002656 Epiphyseal dysplasia Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002815 Abnormality of the knee Very frequent (99-80%)
HP:0003025 Metaphyseal irregularity Very frequent (99-80%)
HP:0003045 Abnormal patella morphology Very frequent (99-80%)
HP:0003084 Fractures of the long bones Very frequent (99-80%)
HP:0003886 Wide humerus Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006482 Abnormality of dental morphology Very frequent (99-80%)
HP:0007642 Congenital stationary night blindness Very frequent (99-80%)
HP:0008110 Equinovarus deformity Very frequent (99-80%)
HP:0008124 Talipes calcaneovarus Very frequent (99-80%)
HP:0008394 Congenital onychodystrophy Very frequent (99-80%)
HP:0008404 Nail dystrophy Very frequent (99-80%)
HP:0009926 Epiphora Very frequent (99-80%)
HP:0030055 Hyperconvex toenail Very frequent (99-80%)
HP:0100255 Metaphyseal dysplasia Very frequent (99-80%)
HP:0012542 Onychauxis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID