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Short lower limbs

MedGen UID:
98100
Concept ID:
C0426901
Finding
Synonyms: Short legs
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]

Conditions with this feature

Moore-Federman syndrome
MedGen UID:
82709
Concept ID:
C0265349
Congenital Abnormality
Infantile hypophosphatasia
MedGen UID:
75677
Concept ID:
C0268412
Disease or Syndrome
Hypophosphatasia is characterized by defective mineralization of bone and/or teeth 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. Although the disease spectrum is a continuum, six clinical forms are usually recognized based on age at diagnosis and severity of features: Perinatal (severe) hypophosphatasia characterized by respiratory insufficiency and hypercalcemia. Perinatal (benign) hypophosphatasia with prenatal skeletal manifestations that slowly resolve into one of the milder forms. Infantile hypophosphatasia with onset between birth and age six months of rickets without elevated serum alkaline phosphatase activity. Childhood (juvenile) hypophosphatasia that ranges from low bone mineral density for age with unexplained fractures to rickets, and premature loss of primary teeth with intact roots. Adult hypophosphatasia 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 20q11.2, and SYNS3 (612961), caused by mutation in the FGF9 gene (600921) on chromosome 13q11-q12.
Congenital livedo reticularis
MedGen UID:
83381
Concept ID:
C0345419
Congenital Abnormality
Metaphyseal chondrodysplasia, Spahr type
MedGen UID:
140928
Concept ID:
C0432225
Disease or Syndrome
Disproportionate short stature with ptosis and valvular heart lesions
MedGen UID:
338866
Concept ID:
C1852073
Disease or Syndrome
Game Friedman Paradice syndrome
MedGen UID:
344639
Concept ID:
C1856052
Disease or Syndrome
A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities.

Recent clinical studies

Etiology

Yadav SS
J Bone Joint Surg Br 1993 Nov;75(6):962-6. PMID: 8245092

Diagnosis

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. 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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