Coloboma of macula-brachydactyly type B syndrome

Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(45.9%)		 10457848
 Brachydactyly type B: case report and further evidence for clinical heterogeneity.
Slavotinek A, Clayton-Smith J.
Clin Dysmorphol. 1999;8(3):165-71.
Syndactyly Absent toe
Congenital Hand Deformities Homo sapiens Infant, Newborn Male Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 9

HPO ID Term Frequency
HP:0000567 Chorioretinal coloboma Very frequent (99-80%)
HP:0005831 Type B brachydactyly Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0001817 Absent fingernail Frequent (79-30%)
HP:0011304 Broad thumb Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0100798 Fingernail dysplasia Frequent (79-30%)
HP:0000104 Renal agenesis Occasional (29-5%)
HP:0004322 Short stature 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