Microcephaly-brachydactyly-kyphoscoliosis syndrome

Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.



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

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0002187 Intellectual disability, profound Very frequent (99-80%)
HP:0002362 Shuffling gait Very frequent (99-80%)
HP:0002705 High, narrow palate Very frequent (99-80%)
HP:0002751 Kyphoscoliosis Very frequent (99-80%)
HP:0003199 Decreased muscle mass Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005469 Flat occiput Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0003413 Atlantoaxial abnormality Frequent (79-30%)
HP:0005620 Hypermobility of interphalangeal joints Frequent (79-30%)
HP:0010055 Broad hallux Frequent (79-30%)
HP:0011304 Broad thumb Frequent (79-30%)
HP:0012811 Wide nasal ridge Frequent (79-30%)


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