Hall-Riggs syndrome

Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(35.3%)		 19363808
 Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?
Ficcadenti A, Santoro L, Petroni V, Carini C, Gabrielli O.
Am J Med Genet A. 2009;149A(5):1001-5.
Brachydactyly
Brain Neoplasms Central Nervous System Venous Angioma Child, Preschool Craniofacial Abnormalities Facies Femur Fingers Homo sapiens Intellectual Disability Male Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0001344 Absent speech Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)
HP:0012471 Thick vermilion border Very frequent (99-80%)
HP:0000154 Wide mouth Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000448 Prominent nose Frequent (79-30%)
HP:0000926 Platyspondyly Frequent (79-30%)
HP:0000944 Abnormality of the metaphysis Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0002017 Nausea and vomiting Frequent (79-30%)
HP:0002208 Coarse hair Frequent (79-30%)
HP:0002217 Slow-growing hair Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002714 Downturned corners of mouth Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0005930 Abnormality of epiphysis morphology Frequent (79-30%)
HP:0009826 Limb undergrowth Frequent (79-30%)
HP:0100874 Thick hair Frequent (79-30%)
HP:0000682 Abnormality of dental enamel Occasional (29-5%)
HP:0000684 Delayed eruption of teeth Occasional (29-5%)
HP:0001387 Joint stiffness Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001156 Brachydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID