Fuhrmann syndrome

Last revised by Ammar Haouimi on 16 Mar 2021

Citation, DOI, disclosures and article data

Citation:

Iqbal S, Haouimi A, Fuhrmann syndrome. Reference article, Radiopaedia.org (Accessed on 19 Apr 2024) https://radiopaedia.org/articles/87802

DOI:

Permalink:

https://radiopaedia.org/articles/87802

rID:

87802

Article created:

16 Mar 2021, Subhan Iqbal

Disclosures:

At the time the article was created Subhan Iqbal had no recorded disclosures.

View Subhan Iqbal's current disclosures

Last revised:

16 Mar 2021, Ammar Haouimi ◉

Disclosures:

At the time the article was last revised Ammar Haouimi had no recorded disclosures.

View Ammar Haouimi's current disclosures

Revisions:

3 times, by 2 contributors - see full revision history and disclosures

Systems:

Musculoskeletal, Paediatrics

Sections:

Syndromes

Tags:

case, cases.refs, cases

Fuhrmann syndrome is a rare non-lethal genetic limb malformation syndrome characterized by ^1,2:

hypoplasia of pelvis
bowing of femur bone
polydactyly
hypoplastic fibula
symmetrical fingernail deficiency ⁴
tooth anomalies ⁵
malformed thumbs ⁸

It is a syndrome in which there is a partial loss of the WNT7A gene identified ^1,3.

Differential diagnosis

Fatco syndrome
Al-Awadi-Raas-Rothschild syndrome is a more severe form of Fuhrmann syndrome in which there is a complete loss of the WNT7A gene reported

References

1. Al QM, Al. Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome. (2013) American journal of medical genetics. Part A. doi:10.1002/ajmg.a.35437 - Pubmed
2. Lipson A, Lipson KK, Lipson BA, Lipson MW, Lipson. Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. (1991) American journal of medical genetics. doi:10.1002/ajmg.1320410208 - Pubmed
3. Al QM, Al SH, Al kF, Al. The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. (2013) Gene. doi:10.1016/j.gene.2012.12.020 - Pubmed
3. Huber J, Huber VJ, Huber RE, Huber. Fuhrmann syndrome: two Brazilian cases. (2003) Clinical dysmorphology. doi:10.1097/00019605-200304000-00002 - Pubmed
4. Woods C, Woods SS, Woods SP, Woods SR, Woods CJ, Woods SE, Woods RE, Woods SK, Woods SS, Woods KG, Woods SS, Woods TC, Woods BJ, Woods KD, Woods AGL, Woods MS, Woods. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. (2006) American journal of human genetics. doi:10.1086/506332 - Pubmed
5. Kantaputra P, Kantaputra KS, Kantaputra VP, Kantaputra KM, Kantaputra KK, Kantaputra OA, Kantaputra KCJ, Kantaputra. Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation. (2017) European journal of medical genetics. doi:10.1016/j.ejmg.2017.09.005 - Pubmed
6. Matsushita M, Matsushita KH, Matsushita MK, Matsushita NY, Matsushita IN, Matsushita. A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome. (2014) Pediatric radiology. doi:10.1007/s00247-014-3013-1 - Pubmed
7. Girisha K, Girisha VT, Girisha SA, Girisha SH, Girisha GP, Girisha SK, Girisha. Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations. (2011) Clinical dysmorphology. doi:10.1097/MCD.0b013e328348d956 - Pubmed
8. Aynaci F, Aynaci O, Aynaci AlA, Aynaci CF, Aynaci. Fuhrmann syndrome associated with cortical dysplasia. (2021) Genetic counseling (Geneva, Switzerland). doi: - Pubmed