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Short lower limbs

MedGen UID:
98100
Concept ID:
C0426901
Finding
Synonyms: Short legs; Short lower extremities
SNOMED CT: Short leg (249786007)
 
HPO: HP:0006385

Definition

Shortening of the legs related to developmental hypoplasia of the bones of the leg. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Short lower limbs

Conditions with this feature

Infantile hypophosphatasia
MedGen UID:
75677
Concept ID:
C0268412
Disease or Syndrome
Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): characterized by pulmonary insufficiency and hypercalcemia. Perinatal (benign): prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile: onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity. Severe childhood (juvenile): variable presenting features progressing to rickets. Mild childhood: low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots. Adult: characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition. Odontohypophosphatasia: characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations.
Symphalangism-brachydactyly syndrome
MedGen UID:
90977
Concept ID:
C0342282
Disease or Syndrome
Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by Takahashi et al., 2001). Genetic Heterogeneity of Multiple Synostoses Syndrome Other forms of multiple synostoses syndrome include SYNS2 (610017), caused by mutation in the GDF5 gene (601146) on chromosome 20q11; SYNS3 (612961), caused by mutation in the FGF9 gene (600921) on chromosome 13q12; and SYNS4 (617898), caused by mutation in the GDF6 gene (601147) on chromosome 8q22.
Congenital livedo reticularis
MedGen UID:
83381
Concept ID:
C0345419
Congenital Abnormality
Isolated and classic cutis marmorata telangiectatica congenita (CMTC) are characterized by congenital skin changes including erythematous-to-violaceous, reticulated, net-like or marbled-appearing patches of skin that do not mostly or completely resolve with warming or any other acute intervention. Individuals with isolated CMTC have no other syndromic features, and skin lesions tend to fade or resolve. Those with classic CMTC may have accompanying hemihypoplasia with body asymmetry, skin atrophy or ulceration, other vascular malformations, and occasional ocular issues (early-onset glaucoma and/or peripheral retinal vascular attenuation) but do not have other malformations, dysmorphic features, or cognitive impairment. The most common location for the CMTC lesions is on the legs. An affected limb may also display weakness or be unusually susceptible to cold compared to an unaffected limb. In more than half of affected individuals, skin lesions will generally fade across a wide range in age (6 weeks to 26 years), most commonly in the first year of life, but may not resolve completely.
Metaphyseal chondrodysplasia, Spahr type
MedGen UID:
140928
Concept ID:
C0432225
Disease or Syndrome
A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.
Osteogenesis imperfecta type 9
MedGen UID:
376720
Concept ID:
C1850169
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX (OI9) is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
MedGen UID:
862975
Concept ID:
C4014538
Disease or Syndrome
ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.
Bent bone dysplasia syndrome 2
MedGen UID:
1824006
Concept ID:
C5774233
Disease or Syndrome
Bent bone dysplasia syndrome-2 (BBDS2) is characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, widely spaced nipples, and atrial septal defects. Abnormalities of muscle function are suggested by the presence of elbow fusions, ulnar flexion contractions at the wrist, and bilateral talipes equinovarus, as well as failure to mount a respiratory effort at birth (Barad et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of bent bone dysplasia syndrome, see BBDS1 (614592).

Professional guidelines

PubMed

Katz JN, Zimmerman ZE, Mass H, Makhni MC
JAMA 2022 May 3;327(17):1688-1699. doi: 10.1001/jama.2022.5921. PMID: 35503342
Morrissey D, Cotchett M, Said J'Bari A, Prior T, Griffiths IB, Rathleff MS, Gulle H, Vicenzino B, Barton CJ
Br J Sports Med 2021 Oct;55(19):1106-1118. Epub 2021 Mar 30 doi: 10.1136/bjsports-2019-101970. PMID: 33785535Free PMC Article
Hoover-Fong J, Scott CI, Jones MC; COMMITTEE ON GENETICS
Pediatrics 2020 Jun;145(6) doi: 10.1542/peds.2020-1010. PMID: 32457214

Recent clinical studies

Etiology

Gruss LT, Gruss R, Schmitt D
Anat Rec (Hoboken) 2017 Apr;300(4):739-751. doi: 10.1002/ar.23550. PMID: 28297175Free PMC Article
Yadav SS
J Bone Joint Surg Br 1993 Nov;75(6):962-6. doi: 10.1302/0301-620X.75B6.8245092. PMID: 8245092

Diagnosis

Liu Y, Wang L, Xu B, Yang Y, Shan D, Wu Q
Medicine (Baltimore) 2019 Jan;98(1):e13850. doi: 10.1097/MD.0000000000013850. PMID: 30608402Free PMC Article
Hossain GA, Islam SM, Mahmood S, Chakraborty RK, Akhter N, Nahar K
Mymensingh Med J 2003 Jan;12(1):64-8. PMID: 12715649
Sabharwal S, Paley D, Bhave A, Herzenberg JE
J Pediatr Orthop 2000 Mar-Apr;20(2):137-45. PMID: 10739271

Therapy

Sabharwal S, Paley D, Bhave A, Herzenberg JE
J Pediatr Orthop 2000 Mar-Apr;20(2):137-45. PMID: 10739271

Prognosis

Steudel-Numbers KL, Tilkens MJ
J Hum Evol 2004 Jul-Aug;47(1-2):95-109. doi: 10.1016/j.jhevol.2004.06.002. PMID: 15288526
Sabharwal S, Paley D, Bhave A, Herzenberg JE
J Pediatr Orthop 2000 Mar-Apr;20(2):137-45. PMID: 10739271
Yadav SS
J Bone Joint Surg Br 1993 Nov;75(6):962-6. doi: 10.1302/0301-620X.75B6.8245092. PMID: 8245092

Clinical prediction guides

Steudel-Numbers KL, Tilkens MJ
J Hum Evol 2004 Jul-Aug;47(1-2):95-109. doi: 10.1016/j.jhevol.2004.06.002. PMID: 15288526
Sabharwal S, Paley D, Bhave A, Herzenberg JE
J Pediatr Orthop 2000 Mar-Apr;20(2):137-45. PMID: 10739271

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