Craniofaciofrontodigital syndrome

Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).



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

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000098 Tall stature Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000574 Thick eyebrow Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0001007 Hirsutism Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001172 Abnormal thumb morphology Very frequent (99-80%)
HP:0001626 Abnormality of the cardiovascular system Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0003043 Abnormality of the shoulder Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0008479 Hypoplastic vertebral bodies Very frequent (99-80%)
HP:0012471 Thick vermilion border Very frequent (99-80%)
HP:0100252 Diaphyseal dysplasia Very frequent (99-80%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0011431 Fetal fifth finger clinodactyly Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0002007 Frontal bossing Occasional (29-5%)
HP:0002240 Hepatomegaly Occasional (29-5%)
HP:0009804 Reduced number of teeth Occasional (29-5%)
HP:0011220 Prominent forehead 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