Velo-facial-skeletal syndrome

A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.



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

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0000276 Long face Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0002705 High, narrow palate Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000275 Narrow face Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000324 Facial asymmetry Frequent (79-30%)
HP:0000474 Thickened nuchal skin fold Frequent (79-30%)
HP:0000506 Telecanthus Frequent (79-30%)
HP:0001172 Abnormal thumb morphology Frequent (79-30%)
HP:0001176 Large hands Frequent (79-30%)
HP:0001212 Prominent fingertip pads Frequent (79-30%)
HP:0001622 Premature birth Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)


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