Format

Send to:

Choose Destination

Coxa vara

MedGen UID:
116081
Concept ID:
C0239138
Anatomical Abnormality
Synonyms: Coxa Vara; Coxa Varas; Coxa Varus; Vara, Coxa; Varas, Coxa; Varus, Coxa
SNOMED CT: Hip joint - varus deformity (74820003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
HPO: HP:0002812
Monarch Initiative: MONDO:0007391
OMIM®: 122750

Definition

Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental. [from MeSH]

Clinical features

From HPO
Coxa vara
MedGen UID:
116081
Concept ID:
C0239138
Anatomical Abnormality
Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.
Coxa vara
MedGen UID:
116081
Concept ID:
C0239138
Anatomical Abnormality
Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.

Conditions with this feature

Cleidocranial dysostosis
MedGen UID:
3486
Concept ID:
C0008928
Disease or Syndrome
A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature.
Multiple congenital exostosis
MedGen UID:
4612
Concept ID:
C0015306
Congenital Abnormality
Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.
Spondyloepiphyseal dysplasia
MedGen UID:
20916
Concept ID:
C0038015
Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Coxa vara
MedGen UID:
116081
Concept ID:
C0239138
Anatomical Abnormality
Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.
Kniest dysplasia
MedGen UID:
75559
Concept ID:
C0265279
Disease or Syndrome
A rare, autosomal dominant inherited bone growth disorder caused by mutations in the COL2A1gene. It is characterized by short stature (dwarfism) and other skeletal abnormalities, round, flat face with bulging and wide-set eyes, myopia and retinal detachment that can lead to blindness.
Spondylometaphyseal dysplasia, Kozlowski type
MedGen UID:
82698
Concept ID:
C0265280
Congenital Abnormality
Spondylometaphyseal dysplasia, Kozlowski type is characterised by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalised platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner.
Metaphyseal chondrodysplasia, Schmid type
MedGen UID:
78550
Concept ID:
C0265289
Disease or Syndrome
Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling gait. Facial features and head size are normal. Radiographs show metaphyseal irregularities of the long bones (e.g., splaying, flaring, cupping); shortening of the tubular bones; widened growth plates; coxa vara; and anterior cupping, sclerosis, and splaying of the ribs. Mild hand involvement often includes shortening of the tubular bones and metaphyseal cupping of the metacarpals and proximal phalanges. Platyspondyly and vertebral end-plate irregularities are less common. Hand and vertebral involvement can resolve with age. Early motor milestones may be delayed due to orthopedic complications. Intelligence is normal. Joint pain in the knees and hips is common and may limit physical activity. Adult height is typically more than 3.5 SD below the mean, although a wide spectrum that overlaps normal height has been reported. There are no extraskeletal manifestations.
Wrinkly skin syndrome
MedGen UID:
98030
Concept ID:
C0406587
Disease or Syndrome
ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.
Autosomal recessive spondyloepimetaphyseal dysplasia
MedGen UID:
98476
Concept ID:
C0432213
Disease or Syndrome
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
Progressive pseudorheumatoid dysplasia
MedGen UID:
96581
Concept ID:
C0432215
Congenital Abnormality
Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.
Spondylometaphyseal dysplasia - Sutcliffe type
MedGen UID:
98146
Concept ID:
C0432221
Disease or Syndrome
Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).
Microcephalic osteodysplastic primordial dwarfism type II
MedGen UID:
96587
Concept ID:
C0432246
Congenital Abnormality
A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
Sponastrime dysplasia
MedGen UID:
266247
Concept ID:
C1300260
Disease or Syndrome
A rare disorder characterized by severe short stature, lumbar lordosis, midface hypoplasia, micromelia, frontal bossing, epiphyseal and metaphyseal abnormalities. The inheritance is autosomal recessive.
Multiple epiphyseal dysplasia with robin phenotype
MedGen UID:
321890
Concept ID:
C1832112
Disease or Syndrome
A rare primary bone dysplasia with characteristics of small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
Rhizomelic dysplasia, Patterson-Lowry type
MedGen UID:
321940
Concept ID:
C1832359
Disease or Syndrome
Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.
Spinal dysplasia, anhalt type
MedGen UID:
318632
Concept ID:
C1832464
Disease or Syndrome
Epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia
MedGen UID:
324484
Concept ID:
C1836315
Congenital Abnormality
A rare primary bone dysplasia characterised by severe early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centres and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, and joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.
Czech dysplasia, metatarsal type
MedGen UID:
324580
Concept ID:
C1836683
Congenital Abnormality
A form of skeletal dysplasia with characteristics of severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. So far, less than 20 patients have been reported, including multiple members of five families from the Czech Republic. Stature and intelligence are normal. Radiographs reveal platyspondyly, irregular vertebral endplates, deformed femoral heads, pelvic dysplasia and narrowed intervertebral spaces. Mutations in the COL2A1 gene have been detected in several of the reported patients. Transmission is autosomal dominant.
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
MedGen UID:
324684
Concept ID:
C1837073
Disease or Syndrome
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) is characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction (summary by Hoover-Fong et al., 2014). Yamamoto et al. (2014) reviewed 16 reported cases of SMDCRD, noting that all affected individuals presented uniform skeletal findings, with rhizomelia and bowed lower limbs observed in the first year of life, whereas retinal dystrophy had a more variable age of onset. There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. Visual loss was progressive, with stabilization in adolescence.
Coxopodopatellar syndrome
MedGen UID:
333474
Concept ID:
C1840061
Disease or Syndrome
A very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Less than 50 patients have been reported worldwide. The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies. Craniofacial anomalies have been reported occasionally. Inherited in an autosomal dominant manner and is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features.
Acrocapitofemoral dysplasia
MedGen UID:
334681
Concept ID:
C1843096
Disease or Syndrome
A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
Dyggve-Melchior-Clausen syndrome, X-linked
MedGen UID:
337052
Concept ID:
C1844654
Disease or Syndrome
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
MedGen UID:
335350
Concept ID:
C1846148
Disease or Syndrome
X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017).
Epiphyseal dysplasia, multiple, 5
MedGen UID:
335542
Concept ID:
C1846843
Disease or Syndrome
Spondylocarpotarsal synostosis syndrome
MedGen UID:
341339
Concept ID:
C1848934
Disease or Syndrome
A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.
Autosomal recessive osteopetrosis 1
MedGen UID:
376708
Concept ID:
C1850127
Disease or Syndrome
A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the TCIRG1 gene on chromosome 11q13, encoding the osteoclast-specific (alpha 3) subunit of the vacuolar proton pump. It is characterized by macrocephaly, frontal bossing, nystagmus, optic atrophy, blindness, deafness, and facial palsy.
Bruck syndrome 1
MedGen UID:
342431
Concept ID:
C1850168
Disease or Syndrome
Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). Genetic Heterogeneity of Bruck Syndrome Bruck syndrome-2 (609220) is caused by homozygous mutation in the PLOD2 gene (601865) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome.
Multiple exostoses type 2
MedGen UID:
377018
Concept ID:
C1851413
Disease or Syndrome
Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk for malignant degeneration is low (~2%-5%).
Dwarfism with tall vertebrae
MedGen UID:
338839
Concept ID:
C1851996
Disease or Syndrome
Osteogenesis imperfecta type 7
MedGen UID:
343981
Concept ID:
C1853162
Disease or Syndrome
Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
MedGen UID:
344437
Concept ID:
C1855175
Disease or Syndrome
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
MedGen UID:
349226
Concept ID:
C1859690
Disease or Syndrome
A rare genetic rheumatologic disease with characteristics of congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. There is evidence the disease can be caused by homozygous mutation in the proteoglycan-4 gene (PRG4) on chromosome 1q31.
Spondyloepimetaphyseal dysplasia, Shohat type
MedGen UID:
400703
Concept ID:
C1865185
Disease or Syndrome
Disease with characteristics of severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy. The long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.
Axial spondylometaphyseal dysplasia
MedGen UID:
356065
Concept ID:
C1865695
Disease or Syndrome
A rare type of spondylometaphyseal dysplasia with characteristics of metaphyseal changes of the truncal-juxta truncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.
Spondyloepimetaphyseal dysplasia, Missouri type
MedGen UID:
355563
Concept ID:
C1865832
Disease or Syndrome
Disorder with manifestations of moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations. Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected siblings. Predisposition deformities to osteoarthritis have been noted. This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner.
Spondylometaphyseal dysplasia, Schmidt type
MedGen UID:
356595
Concept ID:
C1866688
Disease or Syndrome
Spondylometaphyseal dysplasia, Schmidt type has characteristics of short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. This condition has been reported in five members of an Algerian family and one Polish boy. Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
MedGen UID:
357120
Concept ID:
C1866728
Disease or Syndrome
A rare primary bone dysplasia disorder with characteristics of congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.
Spondylometaphyseal dysplasia, East African type
MedGen UID:
388701
Concept ID:
C2673686
Disease or Syndrome
Spondylo-megaepiphyseal-metaphyseal dysplasia
MedGen UID:
412869
Concept ID:
C2750066
Disease or Syndrome
A rare genetic primary bone dysplasia with characteristics of disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay, markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. There is evidence the disease is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15.
Meier-Gorlin syndrome 3
MedGen UID:
462463
Concept ID:
C3151113
Disease or Syndrome
Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.
Osteogenesis imperfecta, type XI
MedGen UID:
462568
Concept ID:
C3151218
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).
Osteogenesis imperfecta, type VI
MedGen UID:
481194
Concept ID:
C3279564
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011).
Spondyloepiphyseal dysplasia tarda
MedGen UID:
762085
Concept ID:
C3541456
Congenital Abnormality
Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
Carpenter syndrome 2
MedGen UID:
767161
Concept ID:
C3554247
Disease or Syndrome
Carpenter syndrome-2 is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000.
Desbuquois dysplasia 1
MedGen UID:
860583
Concept ID:
C4012146
Disease or Syndrome
Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009). Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois Dysplasia DBQD2 (615777) is caused by mutation in the XYLT1 gene (608124) on chromosome 16p12. Two unrelated patients with immunodeficiency-23 (IMD23; 615816), due to mutation in the PGM3 gene (172100), were reported to have skeletal features reminiscent of DBQD.
Rhizomelic chondrodysplasia punctata type 5
MedGen UID:
900333
Concept ID:
C4225237
Disease or Syndrome
Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100.
Anauxetic dysplasia 2
MedGen UID:
1384439
Concept ID:
C4479357
Disease or Syndrome
Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095).
Schwartz Jampel Syndrome, Type 1
MedGen UID:
1647990
Concept ID:
C4551479
Disease or Syndrome
Shwachman-Diamond syndrome 1
MedGen UID:
1640046
Concept ID:
C4692625
Disease or Syndrome
Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common.
Spondylometaphyseal dysplasia
MedGen UID:
1674850
Concept ID:
C4759767
Disease or Syndrome
A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localisation and severity of involvement of the affected metaphyses.
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
MedGen UID:
1684771
Concept ID:
C5231478
Disease or Syndrome
The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019).

Recent clinical studies

Etiology

Yilmaz S, Uludağ Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B
Mol Genet Genomic Med 2018 Mar;6(2):230-248. Epub 2018 Feb 4 doi: 10.1002/mgg3.364. PMID: 29397575Free PMC Article
Roberts DW, Saglam Y, De La Rocha A, Frasquillo BN, Tulchin-Francis K, Kim HKW
J Pediatr Orthop 2018 Apr;38(4):193-201. doi: 10.1097/BPO.0000000000000782. PMID: 27261966
Johari AN, Hampannavar A, Johari RA, Dhawale AA
J Pediatr Orthop B 2017 Jul;26(4):313-319. doi: 10.1097/BPB.0000000000000433. PMID: 28151779
Elzohairy MM, Khairy HM
Clin Orthop Surg 2016 Sep;8(3):310-5. Epub 2016 Aug 10 doi: 10.4055/cios.2016.8.3.310. PMID: 27583115Free PMC Article
Chotigavanichaya C, Leeprakobboon D, Eamsobhana P, Kaewpornsawan K
J Med Assoc Thai 2014 Sep;97 Suppl 9:S78-82. PMID: 25365895

Diagnosis

Lee CH, Lin SM, Chang CH, Lan TY
JBJS Case Connect 2019 Dec;9(4):e0383. doi: 10.2106/JBJS.CC.18.00383. PMID: 31688053
Yilmaz S, Uludağ Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B
Mol Genet Genomic Med 2018 Mar;6(2):230-248. Epub 2018 Feb 4 doi: 10.1002/mgg3.364. PMID: 29397575Free PMC Article
Peters B, Schuurs-Hoeijmakers JH, Fuijkschot J, Reimer A, van der Flier M, Lugtenberg D, Hoppenreijs EP
Pediatr Rheumatol Online J 2016 May 25;14(1):32. doi: 10.1186/s12969-016-0093-5. PMID: 27224999Free PMC Article
Kushare I, Wiltfong RE, Klingele KE
J Pediatr Orthop B 2015 Nov;24(6):511-4. doi: 10.1097/BPB.0000000000000209. PMID: 26110218
Emad Y, Ragab Y, Khalifa M, Bassyouni I, El-Shaarawy N, Rasker JJ
Joint Bone Spine 2013 Oct;80(5):520-2. Epub 2013 Aug 6 doi: 10.1016/j.jbspin.2013.01.010. PMID: 23931850

Therapy

Roberts DW, Saglam Y, De La Rocha A, Frasquillo BN, Tulchin-Francis K, Kim HKW
J Pediatr Orthop 2018 Apr;38(4):193-201. doi: 10.1097/BPO.0000000000000782. PMID: 27261966
Günther CM, Komm M, Jansson V, Heimkes B
J Pediatr Orthop 2013 Jun;33(4):353-60. doi: 10.1097/BPO.0b013e3182812194. PMID: 23653021
Abdelaziz TH, El-Sayed MM
J Pediatr Orthop B 2012 Jul;21(4):325-30. doi: 10.1097/BPB.0b013e32835367e0. PMID: 22547145
Eberl R, Singer G, Ferlic P, Weinberg AM, Hoellwarth ME
Acta Orthop 2010 Aug;81(4):442-5. doi: 10.3109/17453674.2010.501744. PMID: 20809743Free PMC Article
Fassier F, Sardar Z, Aarabi M, Odent T, Haque T, Hamdy R
J Pediatr Orthop 2008 Dec;28(8):799-805. doi: 10.1097/BPO.0b013e31818e19b7. PMID: 19034168

Prognosis

Roberts DW, Saglam Y, De La Rocha A, Frasquillo BN, Tulchin-Francis K, Kim HKW
J Pediatr Orthop 2018 Apr;38(4):193-201. doi: 10.1097/BPO.0000000000000782. PMID: 27261966
Elzohairy MM, Khairy HM
Clin Orthop Surg 2016 Sep;8(3):310-5. Epub 2016 Aug 10 doi: 10.4055/cios.2016.8.3.310. PMID: 27583115Free PMC Article
Chotigavanichaya C, Leeprakobboon D, Eamsobhana P, Kaewpornsawan K
J Med Assoc Thai 2014 Sep;97 Suppl 9:S78-82. PMID: 25365895
Günther CM, Komm M, Jansson V, Heimkes B
J Pediatr Orthop 2013 Jun;33(4):353-60. doi: 10.1097/BPO.0b013e3182812194. PMID: 23653021
Bartoníček J, Vávra J
Arch Orthop Trauma Surg 2011 Sep;131(9):1211-7. Epub 2011 Feb 18 doi: 10.1007/s00402-011-1278-5. PMID: 21331545

Clinical prediction guides

Rizk AS
J Orthop Traumatol 2017 Dec;18(4):365-378. Epub 2017 Jul 12 doi: 10.1007/s10195-017-0463-x. PMID: 28702703Free PMC Article
Qorraj Bytyqi H, Bytyqi C
Am J Case Rep 2017 Apr 23;18:440-443. doi: 10.12659/ajcr.902784. PMID: 28434011Free PMC Article
Yoo JI, Parvizi J, Song JU, Ha YC, Lee YK, Koo KH
J Arthroplasty 2017 Jul;32(7):2199-2203. Epub 2017 Feb 14 doi: 10.1016/j.arth.2017.02.010. PMID: 28262457
Elzohairy MM, Khairy HM
Clin Orthop Surg 2016 Sep;8(3):310-5. Epub 2016 Aug 10 doi: 10.4055/cios.2016.8.3.310. PMID: 27583115Free PMC Article
Chotigavanichaya C, Leeprakobboon D, Eamsobhana P, Kaewpornsawan K
J Med Assoc Thai 2014 Sep;97 Suppl 9:S78-82. PMID: 25365895

Recent systematic reviews

Wright AA, Naze GS, Kavchak AE, Paul D, Kenison B, Hegedus EJ
J Sci Med Sport 2015 Mar;18(2):122-7. Epub 2014 Mar 15 doi: 10.1016/j.jsams.2014.03.004. PMID: 24702945
Yeranosian M, Horneff JG, Baldwin K, Hosalkar HS
Bone Joint J 2013 Jan;95-B(1):135-42. doi: 10.1302/0301-620X.95B1.30161. PMID: 23307688

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center