Fibular aplasia-complex brachydactyly syndrome

A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (<i>WCDMP1</i>).



Input patient's signs and symptoms


Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(49.8%)		 2363425
 Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred.
Ahmad M, Abbas H, Wahab A, Haque S.
Am J Med Genet. 1990;36(3):292-6.
Brachydactyly Fibular hypoplasia
SYNM
Congenital Foot Deformity Congenital Hand Deformities Females Fibula Genes, Recessive Homo sapiens Male Pakistan Syndrome
2
(45.7%)		 26275437
 Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.
Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ.
J Bone Miner Metab. 2016;34(5):599-603.
Micromelia
GDF5
p|SUB|R|377|W;RS#:770941419
Amino Acid Motifs Child, Preschool Females Homo sapiens Male Osteochondrodysplasias Protein Precursors
3
(35.3%)		 9571482
 The surgical management of the upper extremity anomalies associated with Du Pan syndrome.
Lees VC, Hersh JH, Scheker LR.
J Hand Surg Br. 1998;23(1):57-61.
Brachydactyly
Adult Congenital Foot Deformity Congenital Hand Deformities Females Fibula Fingers Genes, Recessive Homo sapiens Infant, Newborn Male Syndrome
4
(23.3%)		 19449465
 Distinctive tomographic features of atlantoaxial dislocation in a boy with acromesomelic dysplasia du Pan syndrome.
Al Kaissi A, Chehida FB, Ben Ghachem M, Klaushofer K, Grill F.
Clin Dysmorphol. 2009;18(2):122-6.
Atlantoaxial dislocation
Child, Preschool Homo sapiens Lower Extremity Deformities, Congenital Male Osteochondrodysplasias
        

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0000446 Narrow nasal bridge Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001172 Abnormal thumb morphology Very frequent (99-80%)
HP:0001376 Limitation of joint mobility Very frequent (99-80%)
HP:0002818 Abnormality of the radius Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0002992 Abnormality of tibia morphology Very frequent (99-80%)
HP:0002997 Abnormality of the ulna Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005048 Synostosis of carpal bones Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0006492 Aplasia/Hypoplasia of the fibula Very frequent (99-80%)
HP:0007598 Bilateral single transverse palmar creases Very frequent (99-80%)
HP:0008368 Tarsal synostosis Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0001156 Brachydactyly 2
HP:0003038 Fibular hypoplasia 1
HP:0003414 Atlantoaxial dislocation 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
BMPR1B bone morphogenetic protein receptor type 1B 658
GDF5 growth differentiation factor 5 8200