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Fuhrmann syndrome

MedGen UID:
346429
Concept ID:
C1856728
Disease or Syndrome
Synonyms: Bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies; Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly
SNOMED CT: Fuhrmann syndrome (721296004); Fuhrmann Rieger de Sousa syndrome (721296004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): WNT7A (3p25.1)
 
Monarch Initiative: MONDO:0009232
OMIM®: 228930
Orphanet: ORPHA2854

Definition

This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25). [from SNOMEDCT_US]

Clinical features

From HPO
Amenorrhea
MedGen UID:
8016
Concept ID:
C0002453
Finding
Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Finger syndactyly
MedGen UID:
65139
Concept ID:
C0221352
Congenital Abnormality
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Hypoplasia of the radius
MedGen UID:
672334
Concept ID:
C0685381
Congenital Abnormality
Underdevelopment of the radius.
Fibular aplasia
MedGen UID:
373034
Concept ID:
C1836186
Finding
Absence of the fibula.
Aplasia/Hypoplasia involving the metacarpal bones
MedGen UID:
322855
Concept ID:
C1836192
Finding
Aplasia or Hypoplasia affecting the metacarpal bones.
Aplasia/Hypoplasia of the phalanges of the hand
MedGen UID:
341279
Concept ID:
C1848670
Finding
Small or missing phalangeal bones of the fingers of the hand.
Aplasia/hypoplasia of the femur
MedGen UID:
376994
Concept ID:
C1851310
Finding
Absence or underdevelopment of the femur.
Aplasia/Hypoplasia of the fibula
MedGen UID:
341608
Concept ID:
C1856732
Finding
Absence or underdevelopment of the fibula.
Radial bowing
MedGen UID:
347136
Concept ID:
C1859399
Anatomical Abnormality
A bending or abnormal curvature of the radius.
Abnormal finger flexion crease
MedGen UID:
347157
Concept ID:
C1859481
Anatomical Abnormality
Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).
Aplasia/Hypoplasia of metatarsal bones
MedGen UID:
348560
Concept ID:
C1860182
Finding
Absence or underdevelopment of the metatarsal bones.
Aplasia/Hypoplasia of the ulna
MedGen UID:
356032
Concept ID:
C1865571
Congenital Abnormality
Absence or underdevelopment of the ulna.
Patellar aplasia
MedGen UID:
401474
Concept ID:
C1868578
Congenital Abnormality
Absence of the patella.
Aplasia/Hypoplasia of fingers
MedGen UID:
870620
Concept ID:
C4025071
Anatomical Abnormality
Small/hypoplastic or absent/aplastic fingers.
Aplasia/Hypoplasia of the 5th finger
MedGen UID:
870623
Concept ID:
C4025074
Anatomical Abnormality
A small/hypoplastic or absent/aplastic 5th finger.
Foot oligodactyly
MedGen UID:
923973
Concept ID:
C4281601
Anatomical Abnormality
A developmental defect resulting in the presence of fewer than the normal number of toes.
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Finger aplasia
MedGen UID:
1841564
Concept ID:
C5779506
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Congenital hip dislocation
MedGen UID:
9258
Concept ID:
C0019555
Disease or Syndrome
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
Hypoplastic iliac wing
MedGen UID:
351279
Concept ID:
C1865027
Anatomical Abnormality
Underdevelopment of the ilium ala.
Hypoplastic pelvis
MedGen UID:
760700
Concept ID:
C3536734
Anatomical Abnormality
Underdevelopment of the bony pelvis.
Absent toenail
MedGen UID:
336719
Concept ID:
C1844555
Congenital Abnormality
Congenital absence of the toenail.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFuhrmann syndrome
Follow this link to review classifications for Fuhrmann syndrome in Orphanet.

Recent clinical studies

Etiology

Al-Qattan MM
Am J Med Genet A 2013 Sep;161A(9):2274-80. Epub 2013 Aug 6 doi: 10.1002/ajmg.a.35437. PMID: 23922166
Ekbote AV, Danda S
Foot Ankle Spec 2012 Feb;5(1):37-40. Epub 2011 Sep 30 doi: 10.1177/1938640011422594. PMID: 21965580

Diagnosis

Kantaputra PN, Kapoor S, Verma P, Kaewgahya M, Kawasaki K, Ohazama A, Ketudat Cairns JR
Eur J Med Genet 2017 Dec;60(12):695-700. Epub 2017 Sep 14 doi: 10.1016/j.ejmg.2017.09.005. PMID: 28917830
Matsushita M, Kitoh H, Mishima K, Nishida Y, Ishiguro N
Pediatr Radiol 2014 Dec;44(12):1617-9. Epub 2014 May 18 doi: 10.1007/s00247-014-3013-1. PMID: 24839142
Al-Qattan MM
Am J Med Genet A 2013 Sep;161A(9):2274-80. Epub 2013 Aug 6 doi: 10.1002/ajmg.a.35437. PMID: 23922166
Ekbote AV, Danda S
Foot Ankle Spec 2012 Feb;5(1):37-40. Epub 2011 Sep 30 doi: 10.1177/1938640011422594. PMID: 21965580
Eyaid W, Al-Qattan MM, Al Abdulkareem I, Fetaini N, Al Balwi M
Am J Med Genet A 2011 Mar;155A(3):599-604. Epub 2011 Feb 22 doi: 10.1002/ajmg.a.33717. PMID: 21344627

Clinical prediction guides

Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S
Am J Hum Genet 2006 Aug;79(2):402-8. Epub 2006 Jun 23 doi: 10.1086/506332. PMID: 16826533Free PMC Article

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