Microbrachycephaly-ptosis-cleft lip syndrome

Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.



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

Phenotype(s) retrieved from Orphanet

    Total: 36

HPO ID Term Frequency
HP:0000239 Large fontanelles Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000270 Delayed cranial suture closure Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000275 Narrow face Very frequent (99-80%)
HP:0000276 Long face Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000364 Hearing abnormality Very frequent (99-80%)
HP:0000446 Narrow nasal bridge Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000598 Abnormality of the ear Very frequent (99-80%)
HP:0000601 Hypotelorism Very frequent (99-80%)
HP:0000767 Pectus excavatum Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001167 Abnormality of finger Very frequent (99-80%)
HP:0001172 Abnormal thumb morphology Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001328 Specific learning disability Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0003019 Abnormality of the wrist Very frequent (99-80%)
HP:0003172 Abnormality of the pubic bone Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0005469 Flat occiput Very frequent (99-80%)
HP:0007598 Bilateral single transverse palmar creases Very frequent (99-80%)
HP:0008818 Large iliac wings Very frequent (99-80%)
HP:0009721 Shagreen patch Very frequent (99-80%)
HP:0009891 Underdeveloped supraorbital ridges Very frequent (99-80%)
HP:0010668 Abnormality of the zygomatic bone Very frequent (99-80%)
HP:0100333 Unilateral cleft lip Very frequent (99-80%)
HP:0003307 Hyperlordosis Frequent (79-30%)
HP:0010579 Cone-shaped epiphysis 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