Marfanoid habitus-autosomal recessive intellectual disability syndrome

Marfanoid habitus – intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.



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

Phenotype(s) retrieved from Orphanet

    Total: 43

HPO ID Term Frequency
HP:0000098 Tall stature Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001382 Joint hypermobility Very frequent (99-80%)
HP:0001519 Disproportionate tall stature Very frequent (99-80%)
HP:0003100 Slender long bone Very frequent (99-80%)
HP:0003782 Eunuchoid habitus Very frequent (99-80%)
HP:0012771 Increased arm span Very frequent (99-80%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000268 Dolichocephaly Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000280 Coarse facial features Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000445 Wide nose Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0000883 Thin ribs Frequent (79-30%)
HP:0000938 Osteopenia Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001833 Long foot Frequent (79-30%)
HP:0003393 Thenar muscle atrophy Frequent (79-30%)
HP:0006086 Thin metacarpal cortices Frequent (79-30%)
HP:0008050 Abnormality of the palpebral fissures Frequent (79-30%)
HP:0008078 Thin metatarsal cortices Frequent (79-30%)
HP:0009004 Hypoplasia of the musculature Frequent (79-30%)
HP:0009929 Abnormality of the columella Frequent (79-30%)
HP:0010487 Small hypothenar eminence Frequent (79-30%)
HP:0011822 Broad chin Frequent (79-30%)
HP:0011849 Abnormal bone ossification Frequent (79-30%)
HP:0012157 Subcortical cerebral atrophy Frequent (79-30%)
HP:0012368 Flat face Frequent (79-30%)
HP:0000289 Broad philtrum Occasional (29-5%)
HP:0000565 Esotropia Occasional (29-5%)
HP:0000664 Synophrys Occasional (29-5%)
HP:0000777 Abnormality of the thymus Occasional (29-5%)
HP:0001007 Hirsutism Occasional (29-5%)
HP:0001640 Cardiomegaly Occasional (29-5%)
HP:0002162 Low posterior hairline Occasional (29-5%)
HP:0002750 Delayed skeletal maturation Occasional (29-5%)
HP:0008439 Lumbar hemivertebrae Occasional (29-5%)
HP:0009002 Loss of truncal subcutaneous adipose tissue Occasional (29-5%)
HP:0100579 Mucosal telangiectasiae 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