Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.



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Narrow down the case reports



Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.7%)		 2333896
 Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family.
Richieri-Costa A, de Miranda E, Kamiya TY, Freire-Maia DV.
Am J Med Genet. 1990;36(1):1-6.
Toe syndactyly Radioulnar synostosis
Adult Child Congenital Foot Deformity Congenital Hand Deformities Females Genes, Dominant Homo sapiens Male Syndrome
2
(35.4%)		 10869115
 Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
Kantaputra PN, Chalidapong P.
Am J Med Genet. 2000;93(2):126-31.
Syndactyly Triphalangeal thumb
LMBR1
Adult Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Differential Diagnosis Ectromelia Females Homo sapiens Limb Deformities, Congenital Male Polydactyly Syndactyly Syndrome Terminology as Topic
        

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0002991 Abnormality of fibula morphology Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005772 Aplasia/Hypoplasia of the tibia Very frequent (99-80%)
HP:0006443 Patellar aplasia Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Frequent (79-30%)
HP:0009601 Aplasia/Hypoplasia of the thumb 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