Acrofacial dysostosis, Catania type

A very rare acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.



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

Phenotype(s) retrieved from Orphanet

    Total: 35

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000308 Microretrognathia Very frequent (99-80%)
HP:0000319 Smooth philtrum Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000670 Carious teeth Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0010669 Hypoplasia of the zygomatic bone Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0004467 Preauricular pit Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0008872 Feeding difficulties in infancy Frequent (79-30%)
HP:0010720 Abnormal hair pattern Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000047 Hypospadias Occasional (29-5%)
HP:0000465 Webbed neck Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0001622 Premature birth Occasional (29-5%)
HP:0002006 Facial cleft Occasional (29-5%)
HP:0002208 Coarse hair Occasional (29-5%)
HP:0003298 Spina bifida occulta Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0009804 Reduced number of teeth 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