Arachnodactyly-abnormal ossification-intellectual disability syndrome

A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)

  


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

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0000270 Delayed cranial suture closure Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000586 Shallow orbits Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0008947 Infantile muscular hypotonia Frequent (79-30%)
HP:0010539 Thin calvarium Frequent (79-30%)
HP:0010565 Aplasia/Hypoplasia of the Epiglottis Frequent (79-30%)
HP:0011800 Midface retrusion Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)
HP:0002104 Apnea 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