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Long fibula

MedGen UID:
338386
Concept ID:
C1848109
Finding
Synonyms: Disproportionately long fibula; Disproportionately long fibulae; Long fibulae
 
HPO: HP:0003085

Definition

Disproportionately long fibulae. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLong fibula

Conditions with this feature

X-linked spondyloepimetaphyseal dysplasia
MedGen UID:
376281
Concept ID:
C1848097
Disease or Syndrome
A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
Spondylometaphyseal dysplasia, Sedaghatian type
MedGen UID:
340816
Concept ID:
C1855229
Disease or Syndrome
Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014).
Spondyloepimetaphyseal dysplasia, Genevieve type
MedGen UID:
355314
Concept ID:
C1864872
Disease or Syndrome
Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses (summary by van Karnebeek et al., 2016).

Professional guidelines

PubMed

Sabharwal S, Alcorn SR, Morris CD
JBJS Rev 2021 Aug 20;9(8) doi: 10.2106/JBJS.RVW.20.00275. PMID: 34415860
Rammelt S, Obruba P
Eur J Trauma Emerg Surg 2015 Dec;41(6):601-14. Epub 2014 Nov 12 doi: 10.1007/s00068-014-0466-8. PMID: 26037997
Hernlund E, Svedbom A, Ivergård M, Compston J, Cooper C, Stenmark J, McCloskey EV, Jönsson B, Kanis JA
Arch Osteoporos 2013;8(1):136. Epub 2013 Oct 11 doi: 10.1007/s11657-013-0136-1. PMID: 24113837Free PMC Article

Recent clinical studies

Etiology

Exner GU, Jacob HAC, Maquieira GJ
J Foot Ankle Surg 2017 Nov-Dec;56(6):1323-1327. doi: 10.1053/j.jfas.2017.05.047. PMID: 29079242

Diagnosis

Sandomenico C, Sandomenico ML
Pediatr Radiol 1983;13(1):47-50. doi: 10.1007/BF00975668. PMID: 6844056
Dawe C, Wynne-Davies R, Fulford GE
J Bone Joint Surg Br 1982;64(3):377-81. doi: 10.1302/0301-620X.64B3.7096409. PMID: 7096409
Burck U, Schaefer E, Held KR
Pediatr Radiol 1980 Apr;9(3):161-5. doi: 10.1007/BF01464311. PMID: 7393671

Prognosis

Exner GU, Jacob HAC, Maquieira GJ
J Foot Ankle Surg 2017 Nov-Dec;56(6):1323-1327. doi: 10.1053/j.jfas.2017.05.047. PMID: 29079242

Clinical prediction guides

Exner GU, Jacob HAC, Maquieira GJ
J Foot Ankle Surg 2017 Nov-Dec;56(6):1323-1327. doi: 10.1053/j.jfas.2017.05.047. PMID: 29079242

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