Dysmorphism-cleft palate-loose skin syndrome

Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, <i>pectus excavatum</i>, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.



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Total: 0 (papers)

  


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

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0000098 Tall stature Very frequent (99-80%)
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000243 Trigonocephaly Very frequent (99-80%)
HP:0000275 Narrow face Very frequent (99-80%)
HP:0000276 Long face Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000474 Thickened nuchal skin fold Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001347 Hyperreflexia Very frequent (99-80%)
HP:0001582 Redundant skin Very frequent (99-80%)


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