Intellectual disability-myopathy-short stature-endocrine defect syndrome

Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.



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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: 30

HPO ID Term Frequency
HP:0000044 Hypogonadotrophic hypogonadism Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000545 Myopia Very frequent (99-80%)
HP:0000597 Ophthalmoparesis Very frequent (99-80%)
HP:0001519 Disproportionate tall stature Very frequent (99-80%)
HP:0002231 Sparse body hair Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0003202 Skeletal muscle atrophy Very frequent (99-80%)
HP:0003307 Hyperlordosis Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004303 Abnormal muscle fiber morphology Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004493 Craniofacial hyperostosis Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0010628 Facial palsy Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000411 Protruding ear Frequent (79-30%)
HP:0000426 Prominent nasal bridge Frequent (79-30%)
HP:0001376 Limitation of joint mobility Frequent (79-30%)
HP:0003272 Abnormality of the hip bone Frequent (79-30%)
HP:0000324 Facial asymmetry Occasional (29-5%)
HP:0000377 Abnormality of the pinna Occasional (29-5%)
HP:0000768 Pectus carinatum Occasional (29-5%)
HP:0000772 Abnormality of the ribs Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002575 Tracheoesophageal fistula 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