Mesoaxial synostotic syndactyly with phalangeal reduction

Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(31.0%)		 30107244
 A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.
Ullah A, Ali RH, Majeed AI, Liaqat K, Shah PW, Khan B, Bilal M, Umair M, Ahmad W.
Eur J Med Genet. 2019;62(4):278-281.
Syndactyly
BHLHA9
c|INDEL|252_270|GCA
Adult Basic Helix-Loop-Helix Transcription Factors Child Females Fingers Homo sapiens INDEL Mutation Male Polydactyly Syndactyly Toes
1
(31.0%)		 25466284
 Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH.
Am J Hum Genet. 2014;95(6):649-59.
Syndactyly
BHLHA9
rs672601337 rs672601338 rs672601339
Amino Acid Sequence Basic Helix-Loop-Helix Transcription Factors Binding Sites DNA Mutational Analysis Dimerization Females Fingers Genes, Reporter Genotype Haplotypes Homo sapiens Italy Male Middle Aged Missense Mutation Pakistan Phenotype Protein Binding Sequence Alignment Syndactyly Tertiary Protein Structure Toes Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0001770 Toe syndactyly Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0004691 2-3 toe syndactyly Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0008362 Aplasia/Hypoplasia of the hallux Very frequent (99-80%)
HP:0009701 Metacarpal synostosis Very frequent (99-80%)
HP:0009773 Symphalangism affecting the phalanges of the hand Very frequent (99-80%)
HP:0009778 Short thumb Very frequent (99-80%)
HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand Very frequent (99-80%)
HP:0010109 Short hallux Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0010442 Polydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
BHLHA9 basic helix-loop-helix family member a9 727857